NM_001384474.1(LOXHD1):c.4096-59A>G
|
rs436433
|
0.97854
|
NM_001384474.1(LOXHD1):c.884-166C>T
|
rs674948
|
0.79241
|
NM_001384474.1(LOXHD1):c.245+159T>C
|
rs328179
|
0.79066
|
NM_001384474.1(LOXHD1):c.1431+114T>G
|
rs328145
|
0.75952
|
NM_001384474.1(LOXHD1):c.3463A>G (p.Arg1155Gly)
|
rs1893566
|
0.75216
|
NM_001384474.1(LOXHD1):c.3748+150G>C
|
rs2365336
|
0.73629
|
NM_001384474.1(LOXHD1):c.4530+107A>G
|
rs1450425
|
0.66249
|
NM_001384474.1(LOXHD1):c.2047+154A>G
|
rs435770
|
0.40860
|
NM_001384474.1(LOXHD1):c.1135-124G>A
|
rs328144
|
0.38232
|
NM_001384474.1(LOXHD1):c.1970+181C>A
|
rs328167
|
0.33354
|
NM_001384474.1(LOXHD1):c.6050-229A>G
|
rs9944943
|
0.31747
|
NM_001384474.1(LOXHD1):c.4530+25C>T
|
rs59252058
|
0.30760
|
NM_001384474.1(LOXHD1):c.6293C>T (p.Ala2098Val)
|
rs1377016
|
0.30620
|
NM_001384474.1(LOXHD1):c.3061+20T>G
|
rs2365338
|
0.27692
|
NM_001384474.1(LOXHD1):c.2048-102A>G
|
rs1824682
|
0.27202
|
NM_001384474.1(LOXHD1):c.2244+149A>C
|
rs58458584
|
0.26539
|
NM_001384474.1(LOXHD1):c.3061+206T>C
|
rs16978576
|
0.26368
|
NM_001384474.1(LOXHD1):c.1654+69C>T
|
rs12606558
|
0.26319
|
NM_001384474.1(LOXHD1):c.1135-70C>A
|
rs12608365
|
0.25114
|
NM_001384474.1(LOXHD1):c.6183-11del
|
rs143514947
|
0.23567
|
NM_001384474.1(LOXHD1):c.3061+26T>G
|
rs760402231
|
0.21187
|
NM_001384474.1(LOXHD1):c.2599-233T>C
|
rs17690406
|
0.17961
|
NM_001384474.1(LOXHD1):c.3061+153T>C
|
rs9945240
|
0.15972
|
NM_001384474.1(LOXHD1):c.3619+153T>C
|
rs71364547
|
0.15574
|
NM_001384474.1(LOXHD1):c.-102G>A
|
rs34951935
|
0.14627
|
NM_001384474.1(LOXHD1):c.3217-219A>G
|
rs79242950
|
0.14256
|
NM_001384474.1(LOXHD1):c.4376-186C>T
|
rs78260214
|
0.12941
|
NM_001384474.1(LOXHD1):c.511+165T>C
|
rs72915445
|
0.11276
|
NM_001384474.1(LOXHD1):c.3061+13T>G
|
rs570266616
|
0.10052
|
NM_001384474.1(LOXHD1):c.2473G>A (p.Val825Met)
|
rs36086089
|
0.09592
|
NM_001384474.1(LOXHD1):c.3351-204A>G
|
rs9958056
|
0.09577
|
NM_001384474.1(LOXHD1):c.2175C>T (p.Asn725=)
|
rs2086005
|
0.09206
|
NM_001384474.1(LOXHD1):c.6049+122G>A
|
rs17689432
|
0.08927
|
NM_001384474.1(LOXHD1):c.4531-180A>T
|
rs11663495
|
0.08724
|
NM_001384474.1(LOXHD1):c.3216+190G>A
|
rs17690358
|
0.08287
|
NM_001384474.1(LOXHD1):c.3620-130A>C
|
rs76922429
|
0.07738
|
NM_001384474.1(LOXHD1):c.3619+113A>G
|
rs11661096
|
0.07685
|
NM_001384474.1(LOXHD1):c.5399+13G>A
|
rs59128481
|
0.07068
|
NM_001384474.1(LOXHD1):c.4740+21G>A
|
rs12604163
|
0.06997
|
NM_001384474.1(LOXHD1):c.4868A>G (p.Glu1623Gly)
|
rs12606417
|
0.06993
|
NM_001384474.1(LOXHD1):c.3217-236C>G
|
rs77028433
|
0.06975
|
NM_001384474.1(LOXHD1):c.1087G>A (p.Val363Ile)
|
rs10163657
|
0.05881
|
NM_001384474.1(LOXHD1):c.5878+60A>G
|
rs60852510
|
0.05517
|
NM_001384474.1(LOXHD1):c.3062-61C>T
|
rs111330585
|
0.05087
|
NM_144612.3(LOXHD1):c.*135A>C
|
rs74421427
|
0.04814
|
NM_001384474.1(LOXHD1):c.6584G>A (p.Arg2195His)
|
rs74316327
|
0.04745
|
NM_001384474.1(LOXHD1):c.2245-150A>G
|
rs113726084
|
0.04553
|
NM_001384474.1(LOXHD1):c.512-36del
|
rs75564649
|
0.03212
|
NM_001384474.1(LOXHD1):c.1518+154C>T
|
rs116744683
|
0.03003
|
NM_001384474.1(LOXHD1):c.4531-19C>T
|
rs117403100
|
0.02599
|
NM_001384474.1(LOXHD1):c.3061+11C>G
|
rs763038988
|
0.02450
|
NM_001384474.1(LOXHD1):c.2T>A (p.Met1Lys)
|
rs36024592
|
0.02382
|
NM_001384474.1(LOXHD1):c.1432-186C>T
|
rs115255153
|
0.02190
|
NM_001384474.1(LOXHD1):c.966G>C (p.Gly322=)
|
rs114082868
|
0.02057
|
NM_001384474.1(LOXHD1):c.5518-196C>T
|
rs74740919
|
0.01949
|
NM_001384474.1(LOXHD1):c.3061+31A>G
|
rs1310516133
|
0.01741
|
NM_001384474.1(LOXHD1):c.2370C>T (p.Asp790=)
|
rs34723936
|
0.01692
|
NM_001384474.1(LOXHD1):c.1876G>T (p.Gly626Cys)
|
rs34589386
|
0.01503
|
NM_001384474.1(LOXHD1):c.326+89T>G
|
rs116363073
|
0.01492
|
NM_001384474.1(LOXHD1):c.3269G>A (p.Arg1090Gln)
|
rs118174674
|
0.01368
|
NM_001384474.1(LOXHD1):c.5086-49C>T
|
rs74353684
|
0.01330
|
NM_001384474.1(LOXHD1):c.610+72T>C
|
rs74440735
|
0.01275
|
NM_001384474.1(LOXHD1):c.2080G>T (p.Asp694Tyr)
|
rs35727744
|
0.01194
|
NM_001384474.1(LOXHD1):c.1742T>C (p.Val581Ala)
|
rs35007621
|
0.00961
|
NM_001384474.1(LOXHD1):c.5693-76C>T
|
rs149598385
|
0.00960
|
NM_001384474.1(LOXHD1):c.1518+68A>G
|
rs114708797
|
0.00921
|
NM_001384474.1(LOXHD1):c.3216+49C>T
|
rs116852952
|
0.00880
|
NM_001384474.1(LOXHD1):c.5085+74G>A
|
rs188666577
|
0.00827
|
NM_001384474.1(LOXHD1):c.5271+10G>A
|
rs114014042
|
0.00797
|
NM_001384474.1(LOXHD1):c.2027A>G (p.Asp676Gly)
|
rs16978578
|
0.00777
|
NM_001384474.1(LOXHD1):c.883+56C>T
|
rs115299327
|
0.00773
|
NM_001384474.1(LOXHD1):c.4526G>A (p.Gly1509Glu)
|
rs187587197
|
0.00751
|
NM_001384474.1(LOXHD1):c.3061+6T>G
|
rs1390362412
|
0.00740
|
NM_001384474.1(LOXHD1):c.1028G>A (p.Arg343His)
|
rs183531840
|
0.00717
|
NM_001384474.1(LOXHD1):c.611-15T>C
|
rs146912450
|
0.00662
|
NM_001384474.1(LOXHD1):c.3999C>T (p.Cys1333=)
|
rs117297079
|
0.00657
|
NM_001384474.1(LOXHD1):c.274G>A (p.Val92Ile)
|
rs115275492
|
0.00656
|
NM_001384474.1(LOXHD1):c.4714C>A (p.Arg1572=)
|
rs75949023
|
0.00656
|
NM_001384474.1(LOXHD1):c.3061+97G>A
|
rs147043011
|
0.00652
|
NM_001384474.1(LOXHD1):c.1431+10G>T
|
rs57330753
|
0.00648
|
NM_001384474.1(LOXHD1):c.2599-11C>T
|
rs150139569
|
0.00590
|
NM_001384474.1(LOXHD1):c.5868C>T (p.His1956=)
|
rs114974101
|
0.00548
|
NM_001384474.1(LOXHD1):c.1431+54A>G
|
rs146308320
|
0.00514
|
NM_001384474.1(LOXHD1):c.883+65C>T
|
rs9958918
|
0.00508
|
NM_001384474.1(LOXHD1):c.1843C>A (p.Arg615=)
|
rs112463030
|
0.00507
|
NM_001384474.1(LOXHD1):c.1655-48G>A
|
rs114745545
|
0.00491
|
NM_001384474.1(LOXHD1):c.2871G>A (p.Ser957=)
|
rs181591912
|
0.00482
|
NM_001384474.1(LOXHD1):c.3913+58C>T
|
rs150994738
|
0.00432
|
NM_001384474.1(LOXHD1):c.*96G>A
|
rs569671846
|
0.00415
|
NM_001384474.1(LOXHD1):c.1053G>A (p.Leu351=)
|
rs140842472
|
0.00409
|
NM_001384474.1(LOXHD1):c.457C>T (p.Arg153Cys)
|
rs112618498
|
0.00404
|
NM_001384474.1(LOXHD1):c.3514+18T>C
|
rs371482360
|
0.00369
|
NM_001384474.1(LOXHD1):c.6034G>A (p.Glu2012Lys)
|
rs79045813
|
0.00367
|
NM_001384474.1(LOXHD1):c.1945G>A (p.Asp649Asn)
|
rs141932807
|
0.00362
|
NM_001384474.1(LOXHD1):c.1708G>A (p.Asp570Asn)
|
rs140437150
|
0.00354
|
NM_001384474.1(LOXHD1):c.511+23C>T
|
rs142369820
|
0.00349
|
NM_001384474.1(LOXHD1):c.5802C>A (p.Asn1934Lys)
|
rs61733519
|
0.00316
|
NM_001384474.1(LOXHD1):c.6270G>A (p.Arg2090=)
|
rs367833904
|
0.00315
|
NM_001384474.1(LOXHD1):c.6741C>T (p.Ala2247=)
|
rs189873733
|
0.00308
|
NM_001384474.1(LOXHD1):c.1570C>T (p.Arg524Cys)
|
rs192376005
|
0.00295
|
NM_001384474.1(LOXHD1):c.2264G>T (p.Gly755Val)
|
rs188517529
|
0.00293
|
NM_001384474.1(LOXHD1):c.6783G>A (p.Gly2261=)
|
rs115835484
|
0.00279
|
NM_001384474.1(LOXHD1):c.2307C>T (p.Ser769=)
|
rs115658952
|
0.00271
|
NM_001384474.1(LOXHD1):c.5085+34A>C
|
rs192894611
|
0.00265
|
NM_001384474.1(LOXHD1):c.2047+21G>T
|
rs116877421
|
0.00260
|
NM_001384474.1(LOXHD1):c.4720G>A (p.Glu1574Lys)
|
rs78427072
|
0.00246
|
NM_001384474.1(LOXHD1):c.5689C>T (p.Leu1897=)
|
rs202043044
|
0.00218
|
NM_001384474.1(LOXHD1):c.4822G>A (p.Val1608Ile)
|
rs140042576
|
0.00212
|
NM_001384474.1(LOXHD1):c.1617G>A (p.Met539Ile)
|
rs143142227
|
0.00178
|
NM_001384474.1(LOXHD1):c.5169C>T (p.Tyr1723=)
|
rs114736976
|
0.00178
|
NM_001384474.1(LOXHD1):c.3090G>A (p.Thr1030=)
|
rs113994614
|
0.00173
|
NM_001384474.1(LOXHD1):c.5313C>T (p.Gly1771=)
|
rs373924055
|
0.00168
|
NM_001384474.1(LOXHD1):c.5649G>A (p.Glu1883=)
|
rs180858375
|
0.00160
|
NM_001384474.1(LOXHD1):c.5023C>T (p.Arg1675Cys)
|
rs201060702
|
0.00149
|
NM_001384474.1(LOXHD1):c.2914G>A (p.Glu972Lys)
|
rs367630521
|
0.00138
|
NM_001384474.1(LOXHD1):c.3024C>T (p.Val1008=)
|
rs370616818
|
0.00138
|
NM_001384474.1(LOXHD1):c.5767C>G (p.Gln1923Glu)
|
rs377368588
|
0.00137
|
NM_001384474.1(LOXHD1):c.1961C>T (p.Pro654Leu)
|
rs369297699
|
0.00133
|
NM_001384474.1(LOXHD1):c.3426G>A (p.Val1142=)
|
rs200068167
|
0.00130
|
NM_001384474.1(LOXHD1):c.1244T>G (p.Val415Gly)
|
rs529972175
|
0.00125
|
NM_001145472.3(LOXHD1):c.3340G>A (p.Gly1114Arg)
|
rs142931455
|
0.00112
|
NM_001384474.1(LOXHD1):c.4217C>T (p.Ala1406Val)
|
rs146739496
|
0.00111
|
NM_001384474.1(LOXHD1):c.177G>A (p.Thr59=)
|
rs116413527
|
0.00108
|
NM_001384474.1(LOXHD1):c.3673A>G (p.Ser1225Gly)
|
rs370149278
|
0.00103
|
NM_001384474.1(LOXHD1):c.6099C>T (p.Asn2033=)
|
rs146200756
|
0.00101
|
NM_001384474.1(LOXHD1):c.4440G>A (p.Val1480=)
|
rs76946640
|
0.00098
|
NM_001384474.1(LOXHD1):c.5546A>C (p.Asp1849Ala)
|
rs376636291
|
0.00091
|
NM_001384474.1(LOXHD1):c.3449A>G (p.Gln1150Arg)
|
rs201576880
|
0.00088
|
NM_001384474.1(LOXHD1):c.3941C>T (p.Thr1314Ile)
|
rs182125538
|
0.00083
|
NM_001384474.1(LOXHD1):c.5399+6T>C
|
rs374607583
|
0.00083
|
NM_001384474.1(LOXHD1):c.5692+12G>A
|
rs200518261
|
0.00083
|
NM_001384474.1(LOXHD1):c.6599G>A (p.Arg2200Gln)
|
rs148468627
|
0.00074
|
NM_001384474.1(LOXHD1):c.2684C>G (p.Thr895Ser)
|
rs115042043
|
0.00073
|
NM_001384474.1(LOXHD1):c.4244G>A (p.Arg1415Gln)
|
rs374728484
|
0.00073
|
NM_001384474.1(LOXHD1):c.1815C>T (p.Asp605=)
|
rs201388780
|
0.00071
|
NM_001384474.1(LOXHD1):c.2998C>T (p.Arg1000Trp)
|
rs199847981
|
0.00069
|
NM_001384474.1(LOXHD1):c.4480C>T (p.Arg1494Ter)
|
rs201587138
|
0.00069
|
NM_001384474.1(LOXHD1):c.5853G>A (p.Lys1951=)
|
rs201366522
|
0.00069
|
NM_001384474.1(LOXHD1):c.1162A>G (p.Ile388Val)
|
rs115395163
|
0.00064
|
NM_001384474.1(LOXHD1):c.5050G>A (p.Ala1684Thr)
|
rs376122149
|
0.00063
|
NM_001384474.1(LOXHD1):c.4130G>A (p.Arg1377Gln)
|
rs150095081
|
0.00062
|
NM_001384474.1(LOXHD1):c.6049+35C>T
|
rs187969046
|
0.00058
|
NM_001384474.1(LOXHD1):c.5410G>A (p.Glu1804Lys)
|
rs200242497
|
0.00056
|
NM_001384474.1(LOXHD1):c.889A>C (p.Thr297Pro)
|
rs117747744
|
0.00056
|
NM_001384474.1(LOXHD1):c.5693-8C>A
|
rs544020946
|
0.00053
|
NM_001384474.1(LOXHD1):c.1716C>T (p.Asn572=)
|
rs147582935
|
0.00051
|
NM_001384474.1(LOXHD1):c.4523G>A (p.Arg1508Lys)
|
rs199518750
|
0.00046
|
NM_001384474.1(LOXHD1):c.2575C>T (p.Arg859Trp)
|
rs372546084
|
0.00043
|
NM_001384474.1(LOXHD1):c.6524T>C (p.Phe2175Ser)
|
rs546735322
|
0.00042
|
NM_001384474.1(LOXHD1):c.2352C>T (p.Pro784=)
|
rs111493023
|
0.00041
|
NM_001384474.1(LOXHD1):c.5237T>C (p.Leu1746Pro)
|
rs372241056
|
0.00041
|
NM_001384474.1(LOXHD1):c.5691G>C (p.Leu1897=)
|
rs527820569
|
0.00041
|
NM_001384474.1(LOXHD1):c.6460G>A (p.Val2154Ile)
|
rs182149228
|
0.00041
|
NM_001384474.1(LOXHD1):c.722A>G (p.Asn241Ser)
|
rs191697915
|
0.00041
|
NM_001384474.1(LOXHD1):c.1868G>A (p.Arg623Lys)
|
rs373151735
|
0.00039
|
NM_001384474.1(LOXHD1):c.916G>A (p.Asp306Asn)
|
rs769059187
|
0.00039
|
NM_001384474.1(LOXHD1):c.197C>G (p.Thr66Arg)
|
rs199536893
|
0.00038
|
NM_001384474.1(LOXHD1):c.166G>A (p.Gly56Ser)
|
rs200763838
|
0.00036
|
NM_001384474.1(LOXHD1):c.4082G>A (p.Arg1361His)
|
rs374474061
|
0.00032
|
NM_001384474.1(LOXHD1):c.4632G>A (p.Lys1544=)
|
rs924829697
|
0.00032
|
NM_001384474.1(LOXHD1):c.2727G>A (p.Thr909=)
|
rs754271302
|
0.00031
|
NM_001384474.1(LOXHD1):c.2100G>A (p.Thr700=)
|
rs367826075
|
0.00030
|
NM_001384474.1(LOXHD1):c.4504C>T (p.Arg1502Trp)
|
rs200819355
|
0.00030
|
NM_001384474.1(LOXHD1):c.5400-3C>T
|
rs528236655
|
0.00029
|
NM_001384474.1(LOXHD1):c.1746G>A (p.Gly582=)
|
rs370933210
|
0.00028
|
NM_001384474.1(LOXHD1):c.4824C>G (p.Val1608=)
|
rs114557260
|
0.00028
|
NM_001384474.1(LOXHD1):c.4956C>T (p.Ile1652=)
|
rs187103862
|
0.00028
|
NM_001384474.1(LOXHD1):c.4031G>T (p.Cys1344Phe)
|
rs368870055
|
0.00027
|
NM_001384474.1(LOXHD1):c.1313A>G (p.Lys438Arg)
|
rs186138859
|
0.00026
|
NM_001384474.1(LOXHD1):c.231C>T (p.Leu77=)
|
rs200306249
|
0.00026
|
NM_001384474.1(LOXHD1):c.4180G>A (p.Val1394Met)
|
rs368216643
|
0.00026
|
NM_001384474.1(LOXHD1):c.4584G>A (p.Lys1528=)
|
rs528605609
|
0.00026
|
NM_001384474.1(LOXHD1):c.1717G>A (p.Val573Ile)
|
rs188554662
|
0.00025
|
NM_001384474.1(LOXHD1):c.6082G>A (p.Gly2028Ser)
|
rs569121054
|
0.00025
|
NM_001384474.1(LOXHD1):c.2580G>A (p.Ala860=)
|
rs118140267
|
0.00024
|
NM_001384474.1(LOXHD1):c.3453C>T (p.Ser1151=)
|
rs551949683
|
0.00024
|
NM_001384474.1(LOXHD1):c.3561G>A (p.Lys1187=)
|
rs376334860
|
0.00024
|
NM_001384474.1(LOXHD1):c.1571G>A (p.Arg524His)
|
rs187658135
|
0.00022
|
NM_001384474.1(LOXHD1):c.1970+9G>A
|
rs532438706
|
0.00022
|
NM_001384474.1(LOXHD1):c.2223C>T (p.Leu741=)
|
rs199595156
|
0.00022
|
NM_001384474.1(LOXHD1):c.3874C>T (p.Leu1292Phe)
|
rs200792636
|
0.00022
|
NM_001384474.1(LOXHD1):c.3924C>T (p.Tyr1308=)
|
rs184966970
|
0.00022
|
NM_001384474.1(LOXHD1):c.6055G>A (p.Glu2019Lys)
|
rs373848470
|
0.00022
|
NM_001384474.1(LOXHD1):c.1887C>T (p.Ser629=)
|
rs189550119
|
0.00021
|
NM_001384474.1(LOXHD1):c.1944C>T (p.Ser648=)
|
rs369039902
|
0.00021
|
NM_001384474.1(LOXHD1):c.4611C>T (p.Cys1537=)
|
rs189561302
|
0.00021
|
NM_001384474.1(LOXHD1):c.4877-15C>T
|
rs138060208
|
0.00021
|
NM_001384474.1(LOXHD1):c.977A>G (p.Asn326Ser)
|
rs188528174
|
0.00020
|
NM_001384474.1(LOXHD1):c.2943G>A (p.Pro981=)
|
rs374083353
|
0.00019
|
NM_001384474.1(LOXHD1):c.5019C>T (p.Phe1673=)
|
rs183427229
|
0.00019
|
NM_001384474.1(LOXHD1):c.6220T>C (p.Leu2074=)
|
rs185604776
|
0.00018
|
NM_001384474.1(LOXHD1):c.6243T>C (p.Cys2081=)
|
rs199645176
|
0.00018
|
NM_001384474.1(LOXHD1):c.1730T>G (p.Leu577Arg)
|
rs727503147
|
0.00017
|
NM_001384474.1(LOXHD1):c.2655G>A (p.Glu885=)
|
rs371763582
|
0.00017
|
NM_001384474.1(LOXHD1):c.5658C>T (p.Ser1886=)
|
rs571456548
|
0.00017
|
NM_001384474.1(LOXHD1):c.5993C>T (p.Thr1998Met)
|
rs538782734
|
0.00017
|
NM_001384474.1(LOXHD1):c.828C>T (p.Asp276=)
|
rs200247093
|
0.00017
|
NM_001384474.1(LOXHD1):c.4202C>T (p.Pro1401Leu)
|
rs377530294
|
0.00016
|
NM_001384474.1(LOXHD1):c.5985C>T (p.Asp1995=)
|
rs559560065
|
0.00016
|
NM_001384474.1(LOXHD1):c.6462C>G (p.Val2154=)
|
rs141737883
|
0.00016
|
NM_001384474.1(LOXHD1):c.868G>A (p.Gly290Arg)
|
rs564030670
|
0.00016
|
NM_001384474.1(LOXHD1):c.2640C>T (p.Leu880=)
|
rs374614343
|
0.00015
|
NM_001384474.1(LOXHD1):c.3951C>A (p.Val1317=)
|
rs779507390
|
0.00015
|
NM_001384474.1(LOXHD1):c.5049C>T (p.Val1683=)
|
rs370538111
|
0.00015
|
NM_001384474.1(LOXHD1):c.5822C>T (p.Pro1941Leu)
|
rs958951917
|
0.00015
|
NM_001384474.1(LOXHD1):c.6777G>A (p.Lys2259=)
|
rs764655234
|
0.00015
|
NM_001384474.1(LOXHD1):c.1762C>T (p.Leu588=)
|
rs959413311
|
0.00014
|
NM_001384474.1(LOXHD1):c.5878+18C>T
|
rs578032409
|
0.00014
|
NM_001384474.1(LOXHD1):c.1303G>A (p.Asp435Asn)
|
rs561064266
|
0.00013
|
NM_001384474.1(LOXHD1):c.2664G>A (p.Gly888=)
|
rs773487745
|
0.00013
|
NM_001384474.1(LOXHD1):c.287G>A (p.Arg96Gln)
|
rs376467400
|
0.00013
|
NM_001384474.1(LOXHD1):c.3852C>T (p.Asp1284=)
|
rs487706
|
0.00013
|
NM_001384474.1(LOXHD1):c.4554C>T (p.Ala1518=)
|
rs376705239
|
0.00013
|
NM_001384474.1(LOXHD1):c.5390A>G (p.Lys1797Arg)
|
rs368286192
|
0.00013
|
NM_001384474.1(LOXHD1):c.5584C>T (p.Arg1862Trp)
|
rs201994383
|
0.00013
|
NM_001384474.1(LOXHD1):c.3236A>G (p.Tyr1079Cys)
|
rs367863703
|
0.00012
|
NM_001384474.1(LOXHD1):c.1476G>T (p.Trp492Cys)
|
rs369682197
|
0.00011
|
NM_001384474.1(LOXHD1):c.1759C>T (p.Arg587Trp)
|
rs540100675
|
0.00011
|
NM_001384474.1(LOXHD1):c.1893C>T (p.Ser631=)
|
rs375920647
|
0.00011
|
NM_001384474.1(LOXHD1):c.4089C>T (p.Ile1363=)
|
rs370376314
|
0.00011
|
NM_001384474.1(LOXHD1):c.3144C>A (p.Gly1048=)
|
rs141514234
|
0.00010
|
NM_001384474.1(LOXHD1):c.3939C>T (p.Tyr1313=)
|
rs562679090
|
0.00010
|
NM_001384474.1(LOXHD1):c.4756C>T (p.Arg1586Cys)
|
rs773223976
|
0.00010
|
NM_001384474.1(LOXHD1):c.5387A>G (p.Lys1796Arg)
|
rs370816148
|
0.00010
|
NM_001384474.1(LOXHD1):c.6562C>T (p.Arg2188Trp)
|
rs771007568
|
0.00010
|
NM_001384474.1(LOXHD1):c.811C>T (p.Arg271Cys)
|
rs727503151
|
0.00010
|
NM_001384474.1(LOXHD1):c.1795T>C (p.Phe599Leu)
|
rs776769626
|
0.00009
|
NM_001384474.1(LOXHD1):c.273C>T (p.Asn91=)
|
rs543837377
|
0.00009
|
NM_001384474.1(LOXHD1):c.2839G>A (p.Asp947Asn)
|
rs371808826
|
0.00009
|
NM_001384474.1(LOXHD1):c.3141C>T (p.Tyr1047=)
|
rs201246229
|
0.00009
|
NM_001384474.1(LOXHD1):c.3471C>T (p.Gly1157=)
|
rs727503141
|
0.00009
|
NM_001384474.1(LOXHD1):c.5085+6G>A
|
rs373466081
|
0.00009
|
NM_001384474.1(LOXHD1):c.5458A>T (p.Thr1820Ser)
|
rs775871086
|
0.00009
|
NM_001384474.1(LOXHD1):c.5514G>A (p.Glu1838=)
|
rs749182319
|
0.00009
|
NM_001384474.1(LOXHD1):c.6000C>T (p.Arg2000=)
|
rs778141140
|
0.00009
|
NM_001384474.1(LOXHD1):c.6123G>A (p.Arg2041=)
|
rs763808404
|
0.00009
|
NM_001384474.1(LOXHD1):c.6198G>A (p.Thr2066=)
|
rs374699091
|
0.00009
|
NM_001384474.1(LOXHD1):c.6666G>A (p.Glu2222=)
|
rs1030153414
|
0.00009
|
NM_001384474.1(LOXHD1):c.6669C>T (p.His2223=)
|
rs759690810
|
0.00009
|
NM_001384474.1(LOXHD1):c.834C>T (p.Asp278=)
|
rs112969644
|
0.00009
|
NM_001384474.1(LOXHD1):c.1008C>T (p.Gly336=)
|
rs1444868169
|
0.00008
|
NM_001384474.1(LOXHD1):c.2034C>T (p.Ser678=)
|
rs151259097
|
0.00008
|
NM_001384474.1(LOXHD1):c.2135A>G (p.Lys712Arg)
|
rs1010867059
|
0.00008
|
NM_001384474.1(LOXHD1):c.2863G>C (p.Glu955Gln)
|
rs548893604
|
0.00008
|
NM_001384474.1(LOXHD1):c.4530+7G>A
|
rs909472558
|
0.00008
|
NM_001384474.1(LOXHD1):c.6363C>A (p.Cys2121Ter)
|
rs754765193
|
0.00008
|
NM_001384474.1(LOXHD1):c.1812T>C (p.Ala604=)
|
rs370384546
|
0.00007
|
NM_001384474.1(LOXHD1):c.2598+19C>T
|
rs369708729
|
0.00007
|
NM_001384474.1(LOXHD1):c.2599-12C>T
|
rs892676326
|
0.00007
|
NM_001384474.1(LOXHD1):c.3279C>T (p.His1093=)
|
rs751278435
|
0.00007
|
NM_001384474.1(LOXHD1):c.3342C>T (p.Asn1114=)
|
rs560611120
|
0.00007
|
NM_001384474.1(LOXHD1):c.3846C>T (p.Asn1282=)
|
rs759329010
|
0.00007
|
NM_001384474.1(LOXHD1):c.4842C>T (p.Thr1614=)
|
rs779714173
|
0.00007
|
NM_001384474.1(LOXHD1):c.611-20T>G
|
rs774128977
|
0.00007
|
NM_001384474.1(LOXHD1):c.2037G>A (p.Ala679=)
|
rs201226222
|
0.00006
|
NM_001384474.1(LOXHD1):c.2204G>A (p.Arg735Gln)
|
rs1393552738
|
0.00006
|
NM_001384474.1(LOXHD1):c.2399T>A (p.Val800Glu)
|
rs755485250
|
0.00006
|
NM_001384474.1(LOXHD1):c.2599-10C>T
|
rs751081260
|
0.00006
|
NM_001384474.1(LOXHD1):c.286C>T (p.Arg96Trp)
|
rs397517861
|
0.00006
|
NM_001384474.1(LOXHD1):c.3025G>A (p.Val1009Met)
|
rs756508090
|
0.00006
|
NM_001384474.1(LOXHD1):c.3061+1G>A
|
rs537227442
|
0.00006
|
NM_001384474.1(LOXHD1):c.3335T>C (p.Met1112Thr)
|
rs371252446
|
0.00006
|
NM_001384474.1(LOXHD1):c.3936C>G (p.Leu1312=)
|
rs533251927
|
0.00006
|
NM_001384474.1(LOXHD1):c.4149G>A (p.Thr1383=)
|
rs373657978
|
0.00006
|
NM_001384474.1(LOXHD1):c.4376-2A>G
|
rs886043616
|
0.00006
|
NM_001384474.1(LOXHD1):c.4376-6G>A
|
rs369463541
|
0.00006
|
NM_001384474.1(LOXHD1):c.4662C>T (p.Asp1554=)
|
rs771306615
|
0.00006
|
NM_001384474.1(LOXHD1):c.4740+13G>T
|
rs570127242
|
0.00006
|
NM_001384474.1(LOXHD1):c.4741-11C>G
|
rs181095005
|
0.00006
|
NM_001384474.1(LOXHD1):c.5499G>C (p.Pro1833=)
|
rs753071566
|
0.00006
|
NM_001384474.1(LOXHD1):c.5664C>T (p.Thr1888=)
|
rs755539887
|
0.00006
|
NM_001384474.1(LOXHD1):c.5692+7C>T
|
rs1414109612
|
0.00006
|
NM_001384474.1(LOXHD1):c.5772G>A (p.Ser1924=)
|
rs375400056
|
0.00006
|
NM_001384474.1(LOXHD1):c.5804C>T (p.Thr1935Met)
|
rs377485179
|
0.00006
|
NM_001384474.1(LOXHD1):c.5934C>T (p.Asp1978=)
|
rs769356212
|
0.00006
|
NM_001384474.1(LOXHD1):c.5994G>A (p.Thr1998=)
|
rs1396547586
|
0.00006
|
NM_001384474.1(LOXHD1):c.6079G>A (p.Gly2027Arg)
|
rs778228882
|
0.00006
|
NM_001384474.1(LOXHD1):c.6252C>T (p.His2084=)
|
rs753440039
|
0.00006
|
NM_001384474.1(LOXHD1):c.6539G>A (p.Gly2180Glu)
|
rs763915229
|
0.00006
|
NM_001384474.1(LOXHD1):c.1827C>T (p.Ile609=)
|
rs774019206
|
0.00005
|
NM_001384474.1(LOXHD1):c.1844G>A (p.Arg615Gln)
|
rs546893082
|
0.00005
|
NM_001384474.1(LOXHD1):c.2308G>A (p.Val770Ile)
|
rs754651566
|
0.00005
|
NM_001384474.1(LOXHD1):c.2558G>A (p.Arg853His)
|
rs763244762
|
0.00005
|
NM_001384474.1(LOXHD1):c.3219A>G (p.Thr1073=)
|
rs748419853
|
0.00005
|
NM_001384474.1(LOXHD1):c.3515-19T>C
|
rs749952816
|
0.00005
|
NM_001384474.1(LOXHD1):c.3897G>A (p.Thr1299=)
|
rs780411781
|
0.00005
|
NM_001384474.1(LOXHD1):c.4068G>A (p.Arg1356=)
|
rs539688337
|
0.00005
|
NM_001384474.1(LOXHD1):c.4734C>T (p.Tyr1578=)
|
rs376338995
|
0.00005
|
NM_001384474.1(LOXHD1):c.5357A>G (p.Asn1786Ser)
|
rs192929296
|
0.00005
|
NM_001384474.1(LOXHD1):c.5517+20A>T
|
rs931131636
|
0.00005
|
NM_001384474.1(LOXHD1):c.6050-15C>T
|
rs397517864
|
0.00005
|
NM_001384474.1(LOXHD1):c.1071C>T (p.Pro357=)
|
rs1391986865
|
0.00004
|
NM_001384474.1(LOXHD1):c.1231C>T (p.Leu411Phe)
|
rs750094027
|
0.00004
|
NM_001384474.1(LOXHD1):c.1271-13_1271-8dup
|
rs1315367406
|
0.00004
|
NM_001384474.1(LOXHD1):c.1305C>T (p.Asp435=)
|
rs916063333
|
0.00004
|
NM_001384474.1(LOXHD1):c.131-5T>C
|
rs1028082247
|
0.00004
|
NM_001384474.1(LOXHD1):c.1432-9T>C
|
rs1197933940
|
0.00004
|
NM_001384474.1(LOXHD1):c.1654+10G>A
|
rs1200519632
|
0.00004
|
NM_001384474.1(LOXHD1):c.176C>T (p.Thr59Met)
|
rs374871163
|
0.00004
|
NM_001384474.1(LOXHD1):c.1839C>T (p.Thr613=)
|
rs1168341162
|
0.00004
|
NM_001384474.1(LOXHD1):c.1883G>A (p.Gly628Asp)
|
rs138530758
|
0.00004
|
NM_001384474.1(LOXHD1):c.1950C>T (p.Asn650=)
|
rs371762941
|
0.00004
|
NM_001384474.1(LOXHD1):c.2245-13G>A
|
rs749554659
|
0.00004
|
NM_001384474.1(LOXHD1):c.2385C>T (p.Asp795=)
|
rs531051635
|
0.00004
|
NM_001384474.1(LOXHD1):c.246-14C>T
|
rs139812523
|
0.00004
|
NM_001384474.1(LOXHD1):c.2718G>A (p.Val906=)
|
rs765691566
|
0.00004
|
NM_001384474.1(LOXHD1):c.2721C>T (p.Asp907=)
|
rs755305237
|
0.00004
|
NM_001384474.1(LOXHD1):c.2802C>G (p.Ala934=)
|
rs1277971631
|
0.00004
|
NM_001384474.1(LOXHD1):c.3061+8G>T
|
rs764128579
|
0.00004
|
NM_001384474.1(LOXHD1):c.3123C>T (p.Asn1041=)
|
rs778087402
|
0.00004
|
NM_001384474.1(LOXHD1):c.3350+7G>A
|
rs750477568
|
0.00004
|
NM_001384474.1(LOXHD1):c.3372T>C (p.Arg1124=)
|
rs971010152
|
0.00004
|
NM_001384474.1(LOXHD1):c.3515-13A>G
|
rs545297878
|
0.00004
|
NM_001384474.1(LOXHD1):c.3549T>C (p.Thr1183=)
|
rs543046319
|
0.00004
|
NM_001384474.1(LOXHD1):c.3566C>T (p.Ala1189Val)
|
rs192712470
|
0.00004
|
NM_001384474.1(LOXHD1):c.3855C>T (p.Asp1285=)
|
rs876657496
|
0.00004
|
NM_001384474.1(LOXHD1):c.3864C>T (p.Ile1288=)
|
rs563547619
|
0.00004
|
NM_001384474.1(LOXHD1):c.387C>T (p.Thr129=)
|
rs1024549319
|
0.00004
|
NM_001384474.1(LOXHD1):c.3896C>T (p.Thr1299Met)
|
rs113591161
|
0.00004
|
NM_001384474.1(LOXHD1):c.4179C>T (p.His1393=)
|
rs765846997
|
0.00004
|
NM_001384474.1(LOXHD1):c.4375+7G>A
|
rs763847381
|
0.00004
|
NM_001384474.1(LOXHD1):c.4428G>A (p.Thr1476=)
|
rs577112286
|
0.00004
|
NM_001384474.1(LOXHD1):c.4982G>A (p.Arg1661His)
|
rs770493552
|
0.00004
|
NM_001384474.1(LOXHD1):c.511+8C>A
|
rs1006067924
|
0.00004
|
NM_001384474.1(LOXHD1):c.512-8G>T
|
rs568722867
|
0.00004
|
NM_001384474.1(LOXHD1):c.5224C>T (p.Arg1742Cys)
|
rs561122654
|
0.00004
|
NM_001384474.1(LOXHD1):c.5349C>T (p.Tyr1783=)
|
rs201819544
|
0.00004
|
NM_001384474.1(LOXHD1):c.5454A>G (p.Pro1818=)
|
rs763569894
|
0.00004
|
NM_001384474.1(LOXHD1):c.5479G>A (p.Asp1827Asn)
|
rs1167683873
|
0.00004
|
NM_001384474.1(LOXHD1):c.5661C>T (p.Tyr1887=)
|
rs1170185905
|
0.00004
|
NM_001384474.1(LOXHD1):c.5910C>T (p.Val1970=)
|
rs777312850
|
0.00004
|
NM_001384474.1(LOXHD1):c.5913T>C (p.Asp1971=)
|
rs773969803
|
0.00004
|
NM_001384474.1(LOXHD1):c.5967C>T (p.Leu1989=)
|
rs574598048
|
0.00004
|
NM_001384474.1(LOXHD1):c.6097A>G (p.Asn2033Asp)
|
rs199838861
|
0.00004
|
NM_001384474.1(LOXHD1):c.621G>A (p.Arg207=)
|
rs200328459
|
0.00004
|
NM_001384474.1(LOXHD1):c.6229A>T (p.Ile2077Phe)
|
rs563899816
|
0.00004
|
NM_001384474.1(LOXHD1):c.6339T>C (p.Asn2113=)
|
rs181548456
|
0.00004
|
NM_001384474.1(LOXHD1):c.6483A>G (p.Thr2161=)
|
rs568443351
|
0.00004
|
NM_001384474.1(LOXHD1):c.6504A>G (p.Ala2168=)
|
rs955461617
|
0.00004
|
NM_001384474.1(LOXHD1):c.6594C>T (p.Phe2198=)
|
rs981453947
|
0.00004
|
NM_001384474.1(LOXHD1):c.6733G>A (p.Gly2245Ser)
|
rs1425657509
|
0.00004
|
NM_001384474.1(LOXHD1):c.867C>T (p.Gly289=)
|
rs748490817
|
0.00004
|
NM_001384474.1(LOXHD1):c.927G>T (p.Gly309=)
|
rs749677224
|
0.00004
|
NM_001384474.1(LOXHD1):c.131-10C>T
|
rs868860449
|
0.00003
|
NM_001384474.1(LOXHD1):c.1605A>G (p.Ile535Met)
|
rs770710016
|
0.00003
|
NM_001384474.1(LOXHD1):c.1707C>T (p.Thr569=)
|
rs371576247
|
0.00003
|
NM_001384474.1(LOXHD1):c.1752G>A (p.Thr584=)
|
rs558087385
|
0.00003
|
NM_001384474.1(LOXHD1):c.2227A>G (p.Thr743Ala)
|
rs759325484
|
0.00003
|
NM_001384474.1(LOXHD1):c.2406G>A (p.Leu802=)
|
rs1305236679
|
0.00003
|
NM_001384474.1(LOXHD1):c.2430C>A (p.Ile810=)
|
rs564006132
|
0.00003
|
NM_001384474.1(LOXHD1):c.2497C>T (p.Arg833Ter)
|
rs188119157
|
0.00003
|
NM_001384474.1(LOXHD1):c.276C>T (p.Val92=)
|
rs373961375
|
0.00003
|
NM_001384474.1(LOXHD1):c.2841C>T (p.Asp947=)
|
rs761010290
|
0.00003
|
NM_001384474.1(LOXHD1):c.2851G>A (p.Glu951Lys)
|
rs138190875
|
0.00003
|
NM_001384474.1(LOXHD1):c.2853G>A (p.Glu951=)
|
rs776642377
|
0.00003
|
NM_001384474.1(LOXHD1):c.3162G>A (p.Thr1054=)
|
rs727503144
|
0.00003
|
NM_001384474.1(LOXHD1):c.3515-4G>A
|
rs1165051728
|
0.00003
|
NM_001384474.1(LOXHD1):c.3567G>A (p.Ala1189=)
|
rs751893205
|
0.00003
|
NM_001384474.1(LOXHD1):c.3816G>A (p.Thr1272=)
|
rs1031241585
|
0.00003
|
NM_001384474.1(LOXHD1):c.4095+8G>T
|
rs1424460932
|
0.00003
|
NM_001384474.1(LOXHD1):c.4212+5G>A
|
rs752553552
|
0.00003
|
NM_001384474.1(LOXHD1):c.442A>T (p.Lys148Ter)
|
rs886044666
|
0.00003
|
NM_001384474.1(LOXHD1):c.4609T>C (p.Cys1537Arg)
|
rs886044147
|
0.00003
|
NM_001384474.1(LOXHD1):c.4657G>A (p.Glu1553Lys)
|
rs185142131
|
0.00003
|
NM_001384474.1(LOXHD1):c.4671G>A (p.Leu1557=)
|
rs763078543
|
0.00003
|
NM_001384474.1(LOXHD1):c.4740+10G>A
|
rs1450932226
|
0.00003
|
NM_001384474.1(LOXHD1):c.4920C>T (p.Asp1640=)
|
rs373551323
|
0.00003
|
NM_001384474.1(LOXHD1):c.4972C>T (p.Arg1658Cys)
|
rs377416999
|
0.00003
|
NM_001384474.1(LOXHD1):c.5046C>T (p.Tyr1682=)
|
rs1019111171
|
0.00003
|
NM_001384474.1(LOXHD1):c.5211C>T (p.Asp1737=)
|
rs758375382
|
0.00003
|
NM_001384474.1(LOXHD1):c.5212G>A (p.Gly1738Ser)
|
rs988558662
|
0.00003
|
NM_001384474.1(LOXHD1):c.5225G>A (p.Arg1742His)
|
rs1248383250
|
0.00003
|
NM_001384474.1(LOXHD1):c.5520C>T (p.Ile1840=)
|
rs1322755170
|
0.00003
|
NM_001384474.1(LOXHD1):c.5628C>T (p.Ile1876=)
|
rs149705118
|
0.00003
|
NM_001384474.1(LOXHD1):c.5697A>G (p.Ala1899=)
|
rs1394674749
|
0.00003
|
NM_001384474.1(LOXHD1):c.5929C>T (p.Arg1977Cys)
|
rs886053824
|
0.00003
|
NM_001384474.1(LOXHD1):c.5931C>T (p.Arg1977=)
|
rs748789925
|
0.00003
|
NM_001384474.1(LOXHD1):c.6071C>T (p.Thr2024Met)
|
rs369043488
|
0.00003
|
NM_001384474.1(LOXHD1):c.6148A>G (p.Met2050Val)
|
rs141749060
|
0.00003
|
NM_001384474.1(LOXHD1):c.6183-8T>G
|
rs964319605
|
0.00003
|
NM_001384474.1(LOXHD1):c.6213C>T (p.Ser2071=)
|
rs956777037
|
0.00003
|
NM_001384474.1(LOXHD1):c.6477C>T (p.Ile2159=)
|
rs1004273195
|
0.00003
|
NM_001384474.1(LOXHD1):c.6519C>T (p.Asn2173=)
|
rs1051256203
|
0.00003
|
NM_001384474.1(LOXHD1):c.6726C>T (p.Thr2242=)
|
rs770501543
|
0.00003
|
NM_001384474.1(LOXHD1):c.71del (p.Leu24fs)
|
rs775267638
|
0.00003
|
NM_001384474.1(LOXHD1):c.760-2del
|
rs770408532
|
0.00003
|
NM_001384474.1(LOXHD1):c.760-7T>C
|
rs201232406
|
0.00003
|
NM_001384474.1(LOXHD1):c.84G>T (p.Ser28=)
|
rs531508329
|
0.00003
|
NM_001384474.1(LOXHD1):c.105G>A (p.Leu35=)
|
rs967030421
|
0.00002
|
NM_001384474.1(LOXHD1):c.1089C>T (p.Val363=)
|
rs578169078
|
0.00002
|
NM_001384474.1(LOXHD1):c.1209G>A (p.Ala403=)
|
rs548430409
|
0.00002
|
NM_001384474.1(LOXHD1):c.1410C>T (p.Pro470=)
|
rs1350438698
|
0.00002
|
NM_001384474.1(LOXHD1):c.1443G>A (p.Pro481=)
|
rs184747932
|
0.00002
|
NM_001384474.1(LOXHD1):c.1468C>T (p.Arg490Ter)
|
rs527536011
|
0.00002
|
NM_001384474.1(LOXHD1):c.1562A>G (p.Asn521Ser)
|
rs556312555
|
0.00002
|
NM_001384474.1(LOXHD1):c.170C>T (p.Ala57Val)
|
rs1131691786
|
0.00002
|
NM_001384474.1(LOXHD1):c.1736G>C (p.Gly579Ala)
|
rs903294457
|
0.00002
|
NM_001384474.1(LOXHD1):c.1941G>A (p.Glu647=)
|
rs1236035040
|
0.00002
|
NM_001384474.1(LOXHD1):c.2316C>T (p.Ile772=)
|
rs876657493
|
0.00002
|
NM_001384474.1(LOXHD1):c.245+5G>A
|
rs374277176
|
0.00002
|
NM_001384474.1(LOXHD1):c.2517T>C (p.Tyr839=)
|
rs1313954787
|
0.00002
|
NM_001384474.1(LOXHD1):c.2598+12C>T
|
rs113696943
|
0.00002
|
NM_001384474.1(LOXHD1):c.2892G>A (p.Ser964=)
|
rs561687256
|
0.00002
|
NM_001384474.1(LOXHD1):c.3015C>T (p.Asn1005=)
|
rs534756824
|
0.00002
|
NM_001384474.1(LOXHD1):c.3057T>C (p.Pro1019=)
|
rs941340488
|
0.00002
|
NM_001384474.1(LOXHD1):c.313A>G (p.Ile105Val)
|
rs1297459733
|
0.00002
|
NM_001384474.1(LOXHD1):c.3351-4A>G
|
rs1568169278
|
0.00002
|
NM_001384474.1(LOXHD1):c.3390A>G (p.Glu1130=)
|
rs368054666
|
0.00002
|
NM_001384474.1(LOXHD1):c.3540C>A (p.Thr1180=)
|
rs927310866
|
0.00002
|
NM_001384474.1(LOXHD1):c.3654C>T (p.Ser1218=)
|
rs774278587
|
0.00002
|
NM_001384474.1(LOXHD1):c.3706C>T (p.Leu1236=)
|
rs1387687824
|
0.00002
|
NM_001384474.1(LOXHD1):c.4096-10C>A
|
rs769258749
|
0.00002
|
NM_001384474.1(LOXHD1):c.409C>T (p.Arg137Cys)
|
rs369244277
|
0.00002
|
NM_001384474.1(LOXHD1):c.4189C>T (p.Arg1397Cys)
|
rs1318962987
|
0.00002
|
NM_001384474.1(LOXHD1):c.4212+1G>A
|
rs889110926
|
0.00002
|
NM_001384474.1(LOXHD1):c.4280T>C (p.Ile1427Thr)
|
rs945869323
|
0.00002
|
NM_001384474.1(LOXHD1):c.4548C>T (p.Ile1516=)
|
rs1265256564
|
0.00002
|
NM_001384474.1(LOXHD1):c.4635G>A (p.Val1545=)
|
rs531191015
|
0.00002
|
NM_001384474.1(LOXHD1):c.4656C>T (p.Asn1552=)
|
rs762118454
|
0.00002
|
NM_001384474.1(LOXHD1):c.4680C>T (p.Cys1560=)
|
rs397517863
|
0.00002
|
NM_001384474.1(LOXHD1):c.4814T>C (p.Met1605Thr)
|
rs922663658
|
0.00002
|
NM_001384474.1(LOXHD1):c.4860C>T (p.Tyr1620=)
|
rs982841436
|
0.00002
|
NM_001384474.1(LOXHD1):c.4886A>G (p.Tyr1629Cys)
|
rs201536647
|
0.00002
|
NM_001384474.1(LOXHD1):c.4922C>T (p.Ala1641Val)
|
rs992296929
|
0.00002
|
NM_001384474.1(LOXHD1):c.5085+13C>T
|
rs868600703
|
0.00002
|
NM_001384474.1(LOXHD1):c.5233G>A (p.Asp1745Asn)
|
rs1020724757
|
0.00002
|
NM_001384474.1(LOXHD1):c.5272-8dup
|
rs777839038
|
0.00002
|
NM_001384474.1(LOXHD1):c.5358C>T (p.Asn1786=)
|
rs369008554
|
0.00002
|
NM_001384474.1(LOXHD1):c.5682C>T (p.Ser1894=)
|
rs567349358
|
0.00002
|
NM_001384474.1(LOXHD1):c.5692+9G>A
|
rs1299737265
|
0.00002
|
NM_001384474.1(LOXHD1):c.597G>A (p.Glu199=)
|
rs1424124384
|
0.00002
|
NM_001384474.1(LOXHD1):c.6060C>T (p.Ile2020=)
|
rs745402795
|
0.00002
|
NM_001384474.1(LOXHD1):c.611-8G>A
|
rs748870133
|
0.00002
|
NM_001384474.1(LOXHD1):c.6130C>T (p.Arg2044Ter)
|
rs1306586204
|
0.00002
|
NM_001384474.1(LOXHD1):c.6309C>T (p.Thr2103=)
|
rs754497626
|
0.00002
|
NM_001384474.1(LOXHD1):c.6321C>T (p.Thr2107=)
|
rs1238383222
|
0.00002
|
NM_001384474.1(LOXHD1):c.6322G>A (p.Glu2108Lys)
|
rs774836161
|
0.00002
|
NM_001384474.1(LOXHD1):c.6333C>T (p.Tyr2111=)
|
rs374858340
|
0.00002
|
NM_001384474.1(LOXHD1):c.6341+7A>T
|
rs1326584841
|
0.00002
|
NM_001384474.1(LOXHD1):c.6378G>A (p.Lys2126=)
|
rs876657498
|
0.00002
|
NM_001384474.1(LOXHD1):c.6405C>T (p.Phe2135=)
|
rs916139061
|
0.00002
|
NM_001384474.1(LOXHD1):c.6417G>A (p.Lys2139=)
|
rs750021433
|
0.00002
|
NM_001384474.1(LOXHD1):c.6547G>A (p.Gly2183Arg)
|
rs943633635
|
0.00002
|
NM_001384474.1(LOXHD1):c.6812C>T (p.Pro2271Leu)
|
rs950165733
|
0.00002
|
NM_001384474.1(LOXHD1):c.757C>T (p.Gln253Ter)
|
rs909435840
|
0.00002
|
NM_001384474.1(LOXHD1):c.78C>T (p.Tyr26=)
|
rs1032456776
|
0.00002
|
NM_001384474.1(LOXHD1):c.87G>A (p.Glu29=)
|
rs1487954570
|
0.00002
|
NM_001384474.1(LOXHD1):c.93C>T (p.Asp31=)
|
rs758062651
|
0.00002
|
NM_001384474.1(LOXHD1):c.1021C>T (p.Arg341Ter)
|
rs931911802
|
0.00001
|
NM_001384474.1(LOXHD1):c.1056T>C (p.Ala352=)
|
rs753695257
|
0.00001
|
NM_001384474.1(LOXHD1):c.1121G>A (p.Trp374Ter)
|
rs368299751
|
0.00001
|
NM_001384474.1(LOXHD1):c.1146G>T (p.Leu382=)
|
rs1200988494
|
0.00001
|
NM_001384474.1(LOXHD1):c.1161T>C (p.Gly387=)
|
rs1036237292
|
0.00001
|
NM_001384474.1(LOXHD1):c.1164C>G (p.Ile388Met)
|
rs1272867617
|
0.00001
|
NM_001384474.1(LOXHD1):c.1182T>C (p.Cys394=)
|
rs530662009
|
0.00001
|
NM_001384474.1(LOXHD1):c.1214G>T (p.Gly405Val)
|
rs1423634836
|
0.00001
|
NM_001384474.1(LOXHD1):c.1227G>A (p.Arg409=)
|
rs1275567930
|
0.00001
|
NM_001384474.1(LOXHD1):c.1236T>C (p.Tyr412=)
|
rs1203046811
|
0.00001
|
NM_001384474.1(LOXHD1):c.1263G>C (p.Arg421=)
|
rs763517625
|
0.00001
|
NM_001384474.1(LOXHD1):c.1308A>G (p.Leu436=)
|
rs1232705545
|
0.00001
|
NM_001384474.1(LOXHD1):c.131-7C>T
|
rs1464245470
|
0.00001
|
NM_001384474.1(LOXHD1):c.1338C>T (p.Phe446=)
|
rs1015986991
|
0.00001
|
NM_001384474.1(LOXHD1):c.1359G>A (p.Lys453=)
|
rs1444405072
|
0.00001
|
NM_001384474.1(LOXHD1):c.1383G>A (p.Leu461=)
|
rs572558965
|
0.00001
|
NM_001384474.1(LOXHD1):c.141G>T (p.Val47=)
|
rs749402939
|
0.00001
|
NM_001384474.1(LOXHD1):c.1431+2T>C
|
rs1456597732
|
0.00001
|
NM_001384474.1(LOXHD1):c.1431+9G>A
|
rs181825231
|
0.00001
|
NM_001384474.1(LOXHD1):c.1432-7A>G
|
rs1431278670
|
0.00001
|
NM_001384474.1(LOXHD1):c.1462A>T (p.Lys488Ter)
|
rs1296722565
|
0.00001
|
NM_001384474.1(LOXHD1):c.1500T>C (p.Ser500=)
|
rs886053838
|
0.00001
|
NM_001384474.1(LOXHD1):c.1518+9C>T
|
rs567534015
|
0.00001
|
NM_001384474.1(LOXHD1):c.1538del (p.Leu513fs)
|
rs1568206162
|
0.00001
|
NM_001384474.1(LOXHD1):c.153G>A (p.Thr51=)
|
rs1458892394
|
0.00001
|
NM_001384474.1(LOXHD1):c.1554C>A (p.Tyr518Ter)
|
rs774587517
|
0.00001
|
NM_001384474.1(LOXHD1):c.1557C>T (p.Asn519=)
|
rs2038179561
|
0.00001
|
NM_001384474.1(LOXHD1):c.1563T>C (p.Asn521=)
|
rs2038179435
|
0.00001
|
NM_001384474.1(LOXHD1):c.1587T>C (p.Asn529=)
|
rs2038178572
|
0.00001
|
NM_001384474.1(LOXHD1):c.1590G>A (p.Glu530=)
|
rs1292319373
|
0.00001
|
NM_001384474.1(LOXHD1):c.1635A>G (p.Thr545=)
|
rs1304665727
|
0.00001
|
NM_001384474.1(LOXHD1):c.1638G>A (p.Val546=)
|
rs752186084
|
0.00001
|
NM_001384474.1(LOXHD1):c.164G>A (p.Arg55His)
|
rs377414885
|
0.00001
|
NM_001384474.1(LOXHD1):c.165C>T (p.Arg55=)
|
rs1209896619
|
0.00001
|
NM_001384474.1(LOXHD1):c.1668T>C (p.His556=)
|
rs1391204036
|
0.00001
|
NM_001384474.1(LOXHD1):c.1810-2A>T
|
rs1410967693
|
0.00001
|
NM_001384474.1(LOXHD1):c.1810-4C>A
|
rs2037889550
|
0.00001
|
NM_001384474.1(LOXHD1):c.1824T>C (p.Thr608=)
|
rs747962021
|
0.00001
|
NM_001384474.1(LOXHD1):c.1833T>C (p.Ser611=)
|
rs918348196
|
0.00001
|
NM_001384474.1(LOXHD1):c.1872C>T (p.His624=)
|
rs751871989
|
0.00001
|
NM_001384474.1(LOXHD1):c.189C>G (p.Val63=)
|
rs904168380
|
0.00001
|
NM_001384474.1(LOXHD1):c.1925A>G (p.Glu642Gly)
|
rs1329103576
|
0.00001
|
NM_001384474.1(LOXHD1):c.1962A>G (p.Pro654=)
|
rs1434524128
|
0.00001
|
NM_001384474.1(LOXHD1):c.1970+8C>T
|
rs1391036494
|
0.00001
|
NM_001384474.1(LOXHD1):c.198G>A (p.Thr66=)
|
rs566538334
|
0.00001
|
NM_001384474.1(LOXHD1):c.2008C>T (p.Arg670Ter)
|
rs121918370
|
0.00001
|
NM_001384474.1(LOXHD1):c.2014T>C (p.Leu672=)
|
rs772610072
|
0.00001
|
NM_001384474.1(LOXHD1):c.2035G>A (p.Ala679Thr)
|
rs779377762
|
0.00001
|
NM_001384474.1(LOXHD1):c.2047+15T>A
|
rs1048096626
|
0.00001
|
NM_001384474.1(LOXHD1):c.2061C>T (p.His687=)
|
rs564753801
|
0.00001
|
NM_001384474.1(LOXHD1):c.2112C>A (p.Val704=)
|
rs1017933129
|
0.00001
|
NM_001384474.1(LOXHD1):c.2121G>A (p.Lys707=)
|
rs1268732633
|
0.00001
|
NM_001384474.1(LOXHD1):c.2142C>T (p.Asp714=)
|
rs1165155467
|
0.00001
|
NM_001384474.1(LOXHD1):c.2220C>T (p.Thr740=)
|
rs1247474817
|
0.00001
|
NM_001384474.1(LOXHD1):c.2247C>A (p.Ile749=)
|
rs1447925246
|
0.00001
|
NM_001384474.1(LOXHD1):c.2268T>C (p.His756=)
|
rs758418164
|
0.00001
|
NM_001384474.1(LOXHD1):c.2334C>A (p.Gly778=)
|
rs747631073
|
0.00001
|
NM_001384474.1(LOXHD1):c.2346C>T (p.Thr782=)
|
rs547033802
|
0.00001
|
NM_001384474.1(LOXHD1):c.2353G>A (p.Ala785Thr)
|
rs886042940
|
0.00001
|
NM_001384474.1(LOXHD1):c.240C>A (p.Thr80=)
|
rs1198958401
|
0.00001
|
NM_001384474.1(LOXHD1):c.2438-9C>A
|
rs886053834
|
0.00001
|
NM_001384474.1(LOXHD1):c.2438-9C>T
|
rs886053834
|
0.00001
|
NM_001384474.1(LOXHD1):c.246-2A>G
|
rs763062406
|
0.00001
|
NM_001384474.1(LOXHD1):c.2481C>T (p.Gly827=)
|
rs1018202440
|
0.00001
|
NM_001384474.1(LOXHD1):c.24G>A (p.Arg8=)
|
rs1300117116
|
0.00001
|
NM_001384474.1(LOXHD1):c.2598+8G>A
|
rs1329193230
|
0.00001
|
NM_001384474.1(LOXHD1):c.2610C>G (p.Ala870=)
|
rs1466164772
|
0.00001
|
NM_001384474.1(LOXHD1):c.2648C>T (p.Thr883Met)
|
rs186315227
|
0.00001
|
NM_001384474.1(LOXHD1):c.2676C>T (p.Phe892=)
|
rs568152703
|
0.00001
|
NM_001384474.1(LOXHD1):c.2700C>T (p.His900=)
|
rs1240219263
|
0.00001
|
NM_001384474.1(LOXHD1):c.2715G>A (p.Glu905=)
|
rs1795860958
|
0.00001
|
NM_001384474.1(LOXHD1):c.2720A>T (p.Asp907Val)
|
rs1188340764
|
0.00001
|
NM_001384474.1(LOXHD1):c.2730G>A (p.Pro910=)
|
rs1213334574
|
0.00001
|
NM_001384474.1(LOXHD1):c.2739G>A (p.Glu913=)
|
rs1233113215
|
0.00001
|
NM_001384474.1(LOXHD1):c.2770C>A (p.Arg924=)
|
rs886053832
|
0.00001
|
NM_001384474.1(LOXHD1):c.2793G>A (p.Arg931=)
|
rs931874288
|
0.00001
|
NM_001384474.1(LOXHD1):c.2811G>A (p.Gln937=)
|
rs1395290856
|
0.00001
|
NM_001384474.1(LOXHD1):c.2829G>A (p.Arg943=)
|
rs769630759
|
0.00001
|
NM_001384474.1(LOXHD1):c.2850C>T (p.Asp950=)
|
rs988613821
|
0.00001
|
NM_001384474.1(LOXHD1):c.2860G>T (p.Glu954Ter)
|
rs2037491872
|
0.00001
|
NM_001384474.1(LOXHD1):c.2880A>G (p.Ser960=)
|
rs756383240
|
0.00001
|
NM_001384474.1(LOXHD1):c.2904G>A (p.Glu968=)
|
rs540282959
|
0.00001
|
NM_001384474.1(LOXHD1):c.2940G>A (p.Gly980=)
|
rs890553851
|
0.00001
|
NM_001384474.1(LOXHD1):c.2955G>A (p.Glu985=)
|
rs1260106134
|
0.00001
|
NM_001384474.1(LOXHD1):c.2976C>T (p.Phe992=)
|
rs1481663810
|
0.00001
|
NM_001384474.1(LOXHD1):c.297C>G (p.Thr99=)
|
rs2038968353
|
0.00001
|
NM_001384474.1(LOXHD1):c.2985C>T (p.His995=)
|
rs1252198221
|
0.00001
|
NM_001384474.1(LOXHD1):c.2988C>T (p.Arg996=)
|
rs1042991457
|
0.00001
|
NM_001384474.1(LOXHD1):c.3051G>A (p.Pro1017=)
|
rs559055540
|
0.00001
|
NM_001384474.1(LOXHD1):c.3061C>T (p.Arg1021Ter)
|
rs963520367
|
0.00001
|
NM_001384474.1(LOXHD1):c.3099G>T (p.Val1033=)
|
rs541024370
|
0.00001
|
NM_001384474.1(LOXHD1):c.3108C>T (p.Ala1036=)
|
rs727503145
|
0.00001
|
NM_001384474.1(LOXHD1):c.3161C>T (p.Thr1054Met)
|
rs555210209
|
0.00001
|
NM_001384474.1(LOXHD1):c.3169C>T (p.Arg1057Ter)
|
rs727505104
|
0.00001
|
NM_001384474.1(LOXHD1):c.318T>C (p.Tyr106=)
|
rs1428410970
|
0.00001
|
NM_001384474.1(LOXHD1):c.3213G>A (p.Gly1071=)
|
rs1414339716
|
0.00001
|
NM_001384474.1(LOXHD1):c.3217-6T>C
|
rs1216800039
|
0.00001
|
NM_001384474.1(LOXHD1):c.3217-9C>G
|
rs2037391465
|
0.00001
|
NM_001384474.1(LOXHD1):c.326+1G>A
|
rs1215109986
|
0.00001
|
NM_001384474.1(LOXHD1):c.327-7G>A
|
rs1439154817
|
0.00001
|
NM_001384474.1(LOXHD1):c.3310C>T (p.Leu1104=)
|
rs1486042119
|
0.00001
|
NM_001384474.1(LOXHD1):c.3324C>T (p.Asp1108=)
|
rs1310411519
|
0.00001
|
NM_001384474.1(LOXHD1):c.333G>A (p.Glu111=)
|
rs1426132328
|
0.00001
|
NM_001384474.1(LOXHD1):c.3350+1G>T
|
rs1301706601
|
0.00001
|
NM_001384474.1(LOXHD1):c.3351-9C>T
|
rs760127693
|
0.00001
|
NM_001384474.1(LOXHD1):c.3391G>A (p.Asp1131Asn)
|
rs574369643
|
0.00001
|
NM_001384474.1(LOXHD1):c.3450G>A (p.Gln1150=)
|
rs997622169
|
0.00001
|
NM_001384474.1(LOXHD1):c.345G>A (p.Thr115=)
|
rs1599069168
|
0.00001
|
NM_001384474.1(LOXHD1):c.3475del (p.Asp1159fs)
|
rs1220271750
|
0.00001
|
NM_001384474.1(LOXHD1):c.3489C>T (p.Leu1163=)
|
rs1447480534
|
0.00001
|
NM_001384474.1(LOXHD1):c.3492C>T (p.Asp1164=)
|
rs1438437322
|
0.00001
|
NM_001384474.1(LOXHD1):c.3501C>A (p.Ala1167=)
|
rs1332131829
|
0.00001
|
NM_001384474.1(LOXHD1):c.3514+13A>G
|
rs991149163
|
0.00001
|
NM_001384474.1(LOXHD1):c.3514+1G>A
|
rs1463849219
|
0.00001
|
NM_001384474.1(LOXHD1):c.3576T>C (p.Asp1192=)
|
rs1353076372
|
0.00001
|
NM_001384474.1(LOXHD1):c.3582T>C (p.Asn1194=)
|
rs1221942681
|
0.00001
|
NM_001384474.1(LOXHD1):c.3594A>G (p.Thr1198=)
|
rs763256484
|
0.00001
|
NM_001384474.1(LOXHD1):c.3597C>G (p.Leu1199=)
|
rs886053829
|
0.00001
|
NM_001384474.1(LOXHD1):c.3645G>A (p.Lys1215=)
|
rs1368084221
|
0.00001
|
NM_001384474.1(LOXHD1):c.3648A>G (p.Thr1216=)
|
rs886053828
|
0.00001
|
NM_001384474.1(LOXHD1):c.3657T>A (p.Asp1219Glu)
|
rs397517862
|
0.00001
|
NM_001384474.1(LOXHD1):c.3672C>T (p.Asp1224=)
|
rs876657495
|
0.00001
|
NM_001384474.1(LOXHD1):c.3684C>A (p.Ile1228=)
|
rs373013775
|
0.00001
|
NM_001384474.1(LOXHD1):c.3699G>A (p.Thr1233=)
|
rs528349121
|
0.00001
|
NM_001384474.1(LOXHD1):c.3717G>A (p.Leu1239=)
|
rs1301522853
|
0.00001
|
NM_001384474.1(LOXHD1):c.382G>C (p.Val128Leu)
|
rs775431645
|
0.00001
|
NM_001384474.1(LOXHD1):c.384G>C (p.Val128=)
|
rs1034235639
|
0.00001
|
NM_001384474.1(LOXHD1):c.3858G>A (p.Gly1286=)
|
rs777187344
|
0.00001
|
NM_001384474.1(LOXHD1):c.3867C>T (p.Ile1289=)
|
rs1474037453
|
0.00001
|
NM_001384474.1(LOXHD1):c.3913+7A>G
|
rs772038369
|
0.00001
|
NM_001384474.1(LOXHD1):c.3920C>G (p.Pro1307Arg)
|
rs757545325
|
0.00001
|
NM_001384474.1(LOXHD1):c.3930C>T (p.Ile1310=)
|
rs267605190
|
0.00001
|
NM_001384474.1(LOXHD1):c.3942C>T (p.Thr1314=)
|
rs948768782
|
0.00001
|
NM_001384474.1(LOXHD1):c.4005C>T (p.Ala1335=)
|
rs955513289
|
0.00001
|
NM_001384474.1(LOXHD1):c.4023G>A (p.Lys1341=)
|
rs891539896
|
0.00001
|
NM_001384474.1(LOXHD1):c.4047A>G (p.Glu1349=)
|
rs117858046
|
0.00001
|
NM_001384474.1(LOXHD1):c.4119T>C (p.Ile1373=)
|
rs1295501496
|
0.00001
|
NM_001384474.1(LOXHD1):c.4152C>A (p.Gly1384=)
|
rs758494024
|
0.00001
|
NM_001384474.1(LOXHD1):c.4213-5C>T
|
rs1015103122
|
0.00001
|
NM_001384474.1(LOXHD1):c.4213-6C>T
|
rs1272549764
|
0.00001
|
NM_001384474.1(LOXHD1):c.4239C>T (p.Cys1413=)
|
rs886053827
|
0.00001
|
NM_001384474.1(LOXHD1):c.4282C>T (p.Arg1428Ter)
|
rs932266011
|
0.00001
|
NM_001384474.1(LOXHD1):c.4293T>C (p.Val1431=)
|
rs1303288995
|
0.00001
|
NM_001384474.1(LOXHD1):c.4299T>A (p.Tyr1433Ter)
|
rs1467160997
|
0.00001
|
NM_001384474.1(LOXHD1):c.4305C>A (p.Ile1435=)
|
rs1364328672
|
0.00001
|
NM_001384474.1(LOXHD1):c.4320C>T (p.Tyr1440=)
|
rs1401665977
|
0.00001
|
NM_001384474.1(LOXHD1):c.4376-9C>T
|
rs1315147314
|
0.00001
|
NM_001384474.1(LOXHD1):c.4425G>C (p.Gly1475=)
|
rs1406436518
|
0.00001
|
NM_001384474.1(LOXHD1):c.4464C>T (p.Leu1488=)
|
rs1298899118
|
0.00001
|
NM_001384474.1(LOXHD1):c.4476_4477insT (p.Glu1493Ter)
|
rs763478051
|
0.00001
|
NM_001384474.1(LOXHD1):c.4497A>G (p.Ser1499=)
|
rs876657497
|
0.00001
|
NM_001384474.1(LOXHD1):c.4518C>T (p.Phe1506=)
|
rs1243080451
|
0.00001
|
NM_001384474.1(LOXHD1):c.4529C>T (p.Thr1510Met)
|
rs1032563817
|
0.00001
|
NM_001384474.1(LOXHD1):c.4531-2A>G
|
rs951333133
|
0.00001
|
NM_001384474.1(LOXHD1):c.4531-4C>T
|
rs1480492978
|
0.00001
|
NM_001384474.1(LOXHD1):c.4531-6C>T
|
rs1178078540
|
0.00001
|
NM_001384474.1(LOXHD1):c.4531-8C>T
|
rs1568137583
|
0.00001
|
NM_001384474.1(LOXHD1):c.4531-9G>A
|
rs1409319193
|
0.00001
|
NM_001384474.1(LOXHD1):c.4536C>T (p.Asp1512=)
|
rs771055914
|
0.00001
|
NM_001384474.1(LOXHD1):c.4566C>T (p.Gly1522=)
|
rs747795390
|
0.00001
|
NM_001384474.1(LOXHD1):c.4686C>T (p.Arg1562=)
|
rs773312118
|
0.00001
|
NM_001384474.1(LOXHD1):c.4691T>C (p.Leu1564Pro)
|
rs1358259929
|
0.00001
|
NM_001384474.1(LOXHD1):c.4719C>T (p.Leu1573=)
|
rs1407446545
|
0.00001
|
NM_001384474.1(LOXHD1):c.471T>G (p.Arg157=)
|
rs1287964072
|
0.00001
|
NM_001384474.1(LOXHD1):c.4728C>T (p.Leu1576=)
|
rs755646221
|
0.00001
|
NM_001384474.1(LOXHD1):c.4741-1G>A
|
rs1057524755
|
0.00001
|
NM_001384474.1(LOXHD1):c.4741-7C>T
|
rs950337152
|
0.00001
|
NM_001384474.1(LOXHD1):c.474C>T (p.Asp158=)
|
rs1334806093
|
0.00001
|
NM_001384474.1(LOXHD1):c.4794_4795insTC (p.Ile1599fs)
|
rs1598914701
|
0.00001
|
NM_001384474.1(LOXHD1):c.4797C>T (p.Ile1599=)
|
rs1175532322
|
0.00001
|
NM_001384474.1(LOXHD1):c.4798G>A (p.Ala1600Thr)
|
rs1412765114
|
0.00001
|
NM_001384474.1(LOXHD1):c.4806C>T (p.Ser1602=)
|
rs1329923779
|
0.00001
|
NM_001384474.1(LOXHD1):c.4818C>T (p.Ala1606=)
|
rs976758061
|
0.00001
|
NM_001384474.1(LOXHD1):c.4839G>A (p.Val1613=)
|
rs1568136028
|
0.00001
|
NM_001384474.1(LOXHD1):c.4845G>A (p.Gly1615=)
|
rs1445938952
|
0.00001
|
NM_001384474.1(LOXHD1):c.4877-19G>A
|
rs2035620420
|
0.00001
|
NM_001384474.1(LOXHD1):c.4911G>A (p.Lys1637=)
|
rs1049390097
|
0.00001
|
NM_001384474.1(LOXHD1):c.4936C>T (p.Arg1646Ter)
|
rs960741408
|
0.00001
|
NM_001384474.1(LOXHD1):c.4938A>G (p.Arg1646=)
|
rs1159378918
|
0.00001
|
NM_001384474.1(LOXHD1):c.4986C>T (p.Ile1662=)
|
rs747431136
|
0.00001
|
NM_001384474.1(LOXHD1):c.4989G>A (p.Trp1663Ter)
|
rs1223508098
|
0.00001
|
NM_001384474.1(LOXHD1):c.5002C>T (p.Arg1668Ter)
|
rs961865375
|
0.00001
|
NM_001384474.1(LOXHD1):c.5005G>C (p.Gly1669Arg)
|
rs1169003694
|
0.00001
|
NM_001384474.1(LOXHD1):c.5010G>A (p.Lys1670=)
|
rs1198605955
|
0.00001
|
NM_001384474.1(LOXHD1):c.5085+1G>T
|
rs1418245706
|
0.00001
|
NM_001384474.1(LOXHD1):c.511+13G>C
|
rs1265165427
|
0.00001
|
NM_001384474.1(LOXHD1):c.5177A>G (p.Asn1726Ser)
|
rs911872032
|
0.00001
|
NM_001384474.1(LOXHD1):c.5190G>C (p.Trp1730Cys)
|
rs764521831
|
0.00001
|
NM_001384474.1(LOXHD1):c.519G>A (p.Lys173=)
|
rs1262076963
|
0.00001
|
NM_001384474.1(LOXHD1):c.51C>T (p.Ala17=)
|
rs1454767391
|
0.00001
|
NM_001384474.1(LOXHD1):c.5232C>T (p.Phe1744=)
|
rs969644369
|
0.00001
|
NM_001384474.1(LOXHD1):c.5272-10C>T
|
rs1302400918
|
0.00001
|
NM_001384474.1(LOXHD1):c.5272-6T>C
|
rs1373573128
|
0.00001
|
NM_001384474.1(LOXHD1):c.5295G>A (p.Trp1765Ter)
|
rs1364064979
|
0.00001
|
NM_001384474.1(LOXHD1):c.5361G>A (p.Gly1787=)
|
rs769253595
|
0.00001
|
NM_001384474.1(LOXHD1):c.5400-20C>T
|
rs546269896
|
0.00001
|
NM_001384474.1(LOXHD1):c.5412G>A (p.Glu1804=)
|
rs1467055882
|
0.00001
|
NM_001384474.1(LOXHD1):c.5418C>T (p.Asn1806=)
|
rs1172174089
|
0.00001
|
NM_001384474.1(LOXHD1):c.5463G>A (p.Lys1821=)
|
rs1343048256
|
0.00001
|
NM_001384474.1(LOXHD1):c.5469G>A (p.Arg1823=)
|
rs1396042689
|
0.00001
|
NM_001384474.1(LOXHD1):c.5496G>A (p.Arg1832=)
|
rs777888363
|
0.00001
|
NM_001384474.1(LOXHD1):c.5498C>T (p.Pro1833Leu)
|
rs772058659
|
0.00001
|
NM_001384474.1(LOXHD1):c.5523A>G (p.Leu1841=)
|
rs759864890
|
0.00001
|
NM_001384474.1(LOXHD1):c.5548C>T (p.Leu1850=)
|
rs760829643
|
0.00001
|
NM_001384474.1(LOXHD1):c.5622C>T (p.Ala1874=)
|
rs886575745
|
0.00001
|
NM_001384474.1(LOXHD1):c.5667C>T (p.Val1889=)
|
rs549738814
|
0.00001
|
NM_001384474.1(LOXHD1):c.5693-5C>A
|
rs573563419
|
0.00001
|
NM_001384474.1(LOXHD1):c.5709C>G (p.Ala1903=)
|
rs2034546761
|
0.00001
|
NM_001384474.1(LOXHD1):c.5730C>T (p.Phe1910=)
|
rs993862992
|
0.00001
|
NM_001384474.1(LOXHD1):c.5739C>T (p.Asn1913=)
|
rs756448029
|
0.00001
|
NM_001384474.1(LOXHD1):c.576C>T (p.Val192=)
|
rs2038616914
|
0.00001
|
NM_001384474.1(LOXHD1):c.5805G>A (p.Thr1935=)
|
rs1204559888
|
0.00001
|
NM_001384474.1(LOXHD1):c.5817C>T (p.Asn1939=)
|
rs754823346
|
0.00001
|
NM_001384474.1(LOXHD1):c.5820C>T (p.Phe1940=)
|
rs2034535631
|
0.00001
|
NM_001384474.1(LOXHD1):c.5847C>G (p.Leu1949=)
|
rs557564580
|
0.00001
|
NM_001384474.1(LOXHD1):c.5871C>T (p.Asp1957=)
|
rs780505634
|
0.00001
|
NM_001384474.1(LOXHD1):c.5909T>A (p.Val1970Asp)
|
rs982069910
|
0.00001
|
NM_001384474.1(LOXHD1):c.5943C>T (p.Phe1981=)
|
rs1442351229
|
0.00001
|
NM_001384474.1(LOXHD1):c.5963G>A (p.Trp1988Ter)
|
rs1598827107
|
0.00001
|
NM_001384474.1(LOXHD1):c.5970C>T (p.Ser1990=)
|
rs1440393721
|
0.00001
|
NM_001384474.1(LOXHD1):c.5979G>A (p.Glu1993=)
|
rs1402378599
|
0.00001
|
NM_001384474.1(LOXHD1):c.5997C>G (p.Val1999=)
|
rs1453366870
|
0.00001
|
NM_001384474.1(LOXHD1):c.6049+7G>T
|
rs750279746
|
0.00001
|
NM_001384474.1(LOXHD1):c.6050-2A>G
|
rs1258811765
|
0.00001
|
NM_001384474.1(LOXHD1):c.6050-4A>G
|
rs1169621696
|
0.00001
|
NM_001384474.1(LOXHD1):c.6057G>A (p.Glu2019=)
|
rs1192453516
|
0.00001
|
NM_001384474.1(LOXHD1):c.6063C>A (p.Val2021=)
|
rs1235204294
|
0.00001
|
NM_001384474.1(LOXHD1):c.6072G>A (p.Thr2024=)
|
rs1376734175
|
0.00001
|
NM_001384474.1(LOXHD1):c.6081A>T (p.Gly2027=)
|
rs758839225
|
0.00001
|
NM_001384474.1(LOXHD1):c.610+8G>C
|
rs1201427280
|
0.00001
|
NM_001384474.1(LOXHD1):c.611-7C>T
|
rs916137735
|
0.00001
|
NM_001384474.1(LOXHD1):c.6112C>T (p.Leu2038=)
|
rs1272576323
|
0.00001
|
NM_001384474.1(LOXHD1):c.6114G>T (p.Leu2038=)
|
rs1220761912
|
0.00001
|
NM_001384474.1(LOXHD1):c.612G>C (p.Gly204=)
|
rs1394276292
|
0.00001
|
NM_001384474.1(LOXHD1):c.6165G>A (p.Arg2055=)
|
rs1487809101
|
0.00001
|
NM_001384474.1(LOXHD1):c.6185G>A (p.Gly2062Glu)
|
rs780122717
|
0.00001
|
NM_001384474.1(LOXHD1):c.6189C>G (p.Thr2063=)
|
rs1415756602
|
0.00001
|
NM_001384474.1(LOXHD1):c.6211A>G (p.Ser2071Gly)
|
rs989907321
|
0.00001
|
NM_001384474.1(LOXHD1):c.6224G>A (p.Gly2075Glu)
|
rs1442825433
|
0.00001
|
NM_001384474.1(LOXHD1):c.6342-15C>T
|
rs1354633431
|
0.00001
|
NM_001384474.1(LOXHD1):c.6420G>A (p.Thr2140=)
|
rs1413499501
|
0.00001
|
NM_001384474.1(LOXHD1):c.6459C>T (p.Pro2153=)
|
rs1219311311
|
0.00001
|
NM_001384474.1(LOXHD1):c.6468C>T (p.Tyr2156=)
|
rs1015633854
|
0.00001
|
NM_001384474.1(LOXHD1):c.6497C>G (p.Pro2166Arg)
|
rs200198786
|
0.00001
|
NM_001384474.1(LOXHD1):c.6516C>T (p.Ala2172=)
|
rs886042223
|
0.00001
|
NM_001384474.1(LOXHD1):c.6525C>T (p.Phe2175=)
|
rs1323433812
|
0.00001
|
NM_001384474.1(LOXHD1):c.6526G>A (p.Val2176Met)
|
rs745938801
|
0.00001
|
NM_001384474.1(LOXHD1):c.6546C>T (p.Asn2182=)
|
rs1446996648
|
0.00001
|
NM_001384474.1(LOXHD1):c.6565G>A (p.Glu2189Lys)
|
rs1054650272
|
0.00001
|
NM_001384474.1(LOXHD1):c.6603C>A (p.Gly2201=)
|
rs755887594
|
0.00001
|
NM_001384474.1(LOXHD1):c.6621C>T (p.Phe2207=)
|
rs756747830
|
0.00001
|
NM_001384474.1(LOXHD1):c.6664G>A (p.Glu2222Lys)
|
rs982649001
|
0.00001
|
NM_001384474.1(LOXHD1):c.6732C>T (p.Thr2244=)
|
rs774313483
|
0.00001
|
NM_001384474.1(LOXHD1):c.6750C>T (p.Phe2250=)
|
rs755975565
|
0.00001
|
NM_001384474.1(LOXHD1):c.732G>C (p.Gly244=)
|
rs2038496437
|
0.00001
|
NM_001384474.1(LOXHD1):c.747G>C (p.Trp249Cys)
|
rs765436710
|
0.00001
|
NM_001384474.1(LOXHD1):c.756C>G (p.Ser252=)
|
rs1010856713
|
0.00001
|
NM_001384474.1(LOXHD1):c.759+9A>G
|
rs1047954371
|
0.00001
|
NM_001384474.1(LOXHD1):c.760-4C>G
|
rs990469054
|
0.00001
|
NM_001384474.1(LOXHD1):c.760-8C>G
|
rs564510850
|
0.00001
|
NM_001384474.1(LOXHD1):c.795T>C (p.Tyr265=)
|
rs1419340032
|
0.00001
|
NM_001384474.1(LOXHD1):c.870A>T (p.Gly290=)
|
rs575694302
|
0.00001
|
NM_001384474.1(LOXHD1):c.884-9C>T
|
rs778746388
|
0.00001
|
NM_001384474.1(LOXHD1):c.891G>A (p.Thr297=)
|
rs1323674599
|
0.00001
|
NM_001384474.1(LOXHD1):c.903C>T (p.Thr301=)
|
rs779306909
|
0.00001
|
NM_001384474.1(LOXHD1):c.915G>C (p.Gly305=)
|
rs747633990
|
0.00001
|
NM_001384474.1(LOXHD1):c.936C>A (p.Thr312=)
|
rs1427652482
|
0.00001
|
NM_001384474.1(LOXHD1):c.942C>A (p.Ser314=)
|
rs1259373213
|
0.00001
|
NM_001384474.1(LOXHD1):c.944A>G (p.Lys315Arg)
|
rs1279719056
|
0.00001
|
NM_001384474.1(LOXHD1):c.948C>T (p.Ile316=)
|
rs780183483
|
0.00001
|
NM_001384474.1(LOXHD1):c.963T>G (p.Tyr321Ter)
|
rs1317610566
|
0.00001
|
NM_001384474.1(LOXHD1):c.96G>A (p.Glu32=)
|
rs562474123
|
0.00001
|
GRCh37/hg19 18q21.1(chr18:44219579-44221999)x1
|
|
|
NC_000018.10:g.46557485TCTG[1]
|
|
|
NC_000018.10:g.46656909_46657366del
|
rs2144417850
|
|
NC_000018.9:g.(?_44063540)_(44065124_?)del
|
|
|
NC_000018.9:g.(?_44087491)_(44089788_?)del
|
|
|
NC_000018.9:g.(?_44104661)_(44109304_?)dup
|
|
|
NC_000018.9:g.(?_44121729)_(44127031_?)del
|
|
|
NC_000018.9:g.(?_44125270)_(44184202_?)del
|
|
|
NC_000018.9:g.(?_44137309)_(44140518_?)del
|
|
|
NC_000018.9:g.(?_44139401)_(44143198_?)del
|
|
|
NC_000018.9:g.(?_44143018)_(44143198_?)del
|
|
|
NC_000018.9:g.(?_44190729)_(44190897_?)del
|
|
|
NC_000018.9:g.(?_44229098)_(44236996_?)dup
|
|
|
NM_001384474.1(LOXHD1):c.100G>T (p.Glu34Ter)
|
|
|
NM_001384474.1(LOXHD1):c.1014G>A (p.Val338=)
|
|
|
NM_001384474.1(LOXHD1):c.1023A>G (p.Arg341=)
|
rs2144283590
|
|
NM_001384474.1(LOXHD1):c.1032G>A (p.Thr344=)
|
rs371770488
|
|
NM_001384474.1(LOXHD1):c.1032G>C (p.Thr344=)
|
rs371770488
|
|
NM_001384474.1(LOXHD1):c.1038C>A (p.Ile346=)
|
|
|
NM_001384474.1(LOXHD1):c.1044C>T (p.His348=)
|
rs1274524633
|
|
NM_001384474.1(LOXHD1):c.1047C>T (p.Ile349=)
|
rs765238879
|
|
NM_001384474.1(LOXHD1):c.1050G>A (p.Glu350=)
|
rs2144283273
|
|
NM_001384474.1(LOXHD1):c.1065T>C (p.Leu355=)
|
|
|
NM_001384474.1(LOXHD1):c.1068C>A (p.Ser356Arg)
|
|
|
NM_001384474.1(LOXHD1):c.1068C>T (p.Ser356=)
|
|
|
NM_001384474.1(LOXHD1):c.1070C>G (p.Pro357Arg)
|
rs1304763696
|
|
NM_001384474.1(LOXHD1):c.1072_1073del (p.Leu358fs)
|
rs2038332961
|
|
NM_001384474.1(LOXHD1):c.1072del (p.Pro357_Leu358insTer)
|
|
|
NM_001384474.1(LOXHD1):c.1074G>C (p.Leu358=)
|
|
|
NM_001384474.1(LOXHD1):c.1077_1096del (p.Ser359fs)
|
|
|
NM_001384474.1(LOXHD1):c.1080G>A (p.Arg360=)
|
rs2144282994
|
|
NM_001384474.1(LOXHD1):c.1083C>A (p.Val361=)
|
|
|
NM_001384474.1(LOXHD1):c.1083C>G (p.Val361=)
|
|
|
NM_001384474.1(LOXHD1):c.1083C>T (p.Val361=)
|
|
|
NM_001384474.1(LOXHD1):c.1086C>T (p.Ser362=)
|
rs760464754
|
|
NM_001384474.1(LOXHD1):c.1089C>G (p.Val363=)
|
|
|
NM_001384474.1(LOXHD1):c.1092G>A (p.Gly364=)
|
rs2144282882
|
|
NM_001384474.1(LOXHD1):c.1101T>C (p.Asn367=)
|
|
|
NM_001384474.1(LOXHD1):c.1104G>A (p.Val368=)
|
|
|
NM_001384474.1(LOXHD1):c.1108G>A (p.Val370Ile)
|
|
|
NM_001384474.1(LOXHD1):c.1113C>T (p.Asn371=)
|
rs2038331953
|
|
NM_001384474.1(LOXHD1):c.1116A>G (p.Arg372=)
|
|
|
NM_001384474.1(LOXHD1):c.1134+12C>G
|
rs1555684960
|
|
NM_001384474.1(LOXHD1):c.1134+13C>T
|
|
|
NM_001384474.1(LOXHD1):c.1134+17G>A
|
|
|
NM_001384474.1(LOXHD1):c.1134+2T>C
|
rs1599040620
|
|
NM_001384474.1(LOXHD1):c.1134+4A>G
|
|
|
NM_001384474.1(LOXHD1):c.1134+5dup
|
rs2144282541
|
|
NM_001384474.1(LOXHD1):c.1135-11A>G
|
|
|
NM_001384474.1(LOXHD1):c.1135-12C>T
|
|
|
NM_001384474.1(LOXHD1):c.1135-13C>G
|
|
|
NM_001384474.1(LOXHD1):c.1135-1G>A
|
|
|
NM_001384474.1(LOXHD1):c.1135-1G>C
|
rs2144247310
|
|
NM_001384474.1(LOXHD1):c.1135-4C>T
|
rs2144247338
|
|
NM_001384474.1(LOXHD1):c.1148G>A (p.Cys383Tyr)
|
|
|
NM_001384474.1(LOXHD1):c.114G>A (p.Glu38=)
|
rs774221381
|
|
NM_001384474.1(LOXHD1):c.115TAC[1] (p.Tyr40del)
|
rs1401999281
|
|
NM_001384474.1(LOXHD1):c.1168C>T (p.Gln390Ter)
|
rs2038226312
|
|
NM_001384474.1(LOXHD1):c.1169A>C (p.Gln390Pro)
|
rs2144247102
|
|
NM_001384474.1(LOXHD1):c.1170G>A (p.Gln390=)
|
rs876657492
|
|
NM_001384474.1(LOXHD1):c.1188C>T (p.Asn396=)
|
rs2038225956
|
|
NM_001384474.1(LOXHD1):c.1191G>T (p.Trp397Cys)
|
rs201033524
|
|
NM_001384474.1(LOXHD1):c.1205_1206del (p.Lys402fs)
|
rs2144246928
|
|
NM_001384474.1(LOXHD1):c.1208C>T (p.Ala403Val)
|
|
|
NM_001384474.1(LOXHD1):c.1209G>T (p.Ala403=)
|
|
|
NM_001384474.1(LOXHD1):c.120C>G (p.Tyr40Ter)
|
|
|
NM_001384474.1(LOXHD1):c.1225A>T (p.Arg409Trp)
|
|
|
NM_001384474.1(LOXHD1):c.1228C>T (p.Gln410Ter)
|
rs777587826
|
|
NM_001384474.1(LOXHD1):c.1236T>G (p.Tyr412Ter)
|
rs1203046811
|
|
NM_001384474.1(LOXHD1):c.1245G>A (p.Val415=)
|
rs2144246523
|
|
NM_001384474.1(LOXHD1):c.1260G>A (p.Lys420=)
|
|
|
NM_001384474.1(LOXHD1):c.1261C>A (p.Arg421=)
|
|
|
NM_001384474.1(LOXHD1):c.1266G>A (p.Leu422=)
|
|
|
NM_001384474.1(LOXHD1):c.126C>G (p.Ala42=)
|
|
|
NM_001384474.1(LOXHD1):c.126C>T (p.Ala42=)
|
|
|
NM_001384474.1(LOXHD1):c.1270+13G>T
|
|
|
NM_001384474.1(LOXHD1):c.1270+14A>G
|
|
|
NM_001384474.1(LOXHD1):c.1270+15C>T
|
|
|
NM_001384474.1(LOXHD1):c.1270+17C>T
|
|
|
NM_001384474.1(LOXHD1):c.1271-12T>C
|
|
|
NM_001384474.1(LOXHD1):c.1271-16T>C
|
|
|
NM_001384474.1(LOXHD1):c.1271-18A>G
|
|
|
NM_001384474.1(LOXHD1):c.1271-1G>T
|
|
|
NM_001384474.1(LOXHD1):c.1271-212C>T
|
rs7243724
|
|
NM_001384474.1(LOXHD1):c.1278T>A (p.Pro426=)
|
rs2144243236
|
|
NM_001384474.1(LOXHD1):c.1285C>T (p.Leu429=)
|
|
|
NM_001384474.1(LOXHD1):c.130+20G>A
|
|
|
NM_001384474.1(LOXHD1):c.130+20G>C
|
|
|
NM_001384474.1(LOXHD1):c.130+75G>A
|
rs57915611
|
|
NM_001384474.1(LOXHD1):c.130+7G>T
|
rs2144417812
|
|
NM_001384474.1(LOXHD1):c.130+8G>T
|
|
|
NM_001384474.1(LOXHD1):c.1302C>A (p.Thr434=)
|
|
|
NM_001384474.1(LOXHD1):c.1302C>T (p.Thr434=)
|
rs377086603
|
|
NM_001384474.1(LOXHD1):c.130G>A (p.Val44Met)
|
rs2144417839
|
|
NM_001384474.1(LOXHD1):c.131-11TCC[2]
|
rs1298203227
|
|
NM_001384474.1(LOXHD1):c.131-11_131-10delinsAA
|
rs876657857
|
|
NM_001384474.1(LOXHD1):c.131-11_131-4del
|
rs2144399918
|
|
NM_001384474.1(LOXHD1):c.131-13del
|
|
|
NM_001384474.1(LOXHD1):c.131-17C>T
|
|
|
NM_001384474.1(LOXHD1):c.131-20C>T
|
|
|
NM_001384474.1(LOXHD1):c.131-4C>T
|
|
|
NM_001384474.1(LOXHD1):c.131-9C>T
|
|
|
NM_001384474.1(LOXHD1):c.1317T>C (p.Ala439=)
|
|
|
NM_001384474.1(LOXHD1):c.1323C>A (p.Thr441=)
|
rs1599035715
|
|
NM_001384474.1(LOXHD1):c.1332C>A (p.Pro444=)
|
rs1284270295
|
|
NM_001384474.1(LOXHD1):c.1332C>T (p.Pro444=)
|
|
|
NM_001384474.1(LOXHD1):c.1350T>C (p.Tyr450=)
|
|
|
NM_001384474.1(LOXHD1):c.1353G>A (p.Gly451=)
|
|
|
NM_001384474.1(LOXHD1):c.1354C>T (p.Gln452Ter)
|
rs2038212764
|
|
NM_001384474.1(LOXHD1):c.1364G>A (p.Arg455Gln)
|
|
|
NM_001384474.1(LOXHD1):c.1380C>G (p.Leu460=)
|
rs750264813
|
|
NM_001384474.1(LOXHD1):c.1380C>T (p.Leu460=)
|
|
|
NM_001384474.1(LOXHD1):c.1388C>A (p.Pro463His)
|
|
|
NM_001384474.1(LOXHD1):c.1391A>G (p.Asn464Ser)
|
|
|
NM_001384474.1(LOXHD1):c.1395C>T (p.Asn465=)
|
rs1319488340
|
|
NM_001384474.1(LOXHD1):c.1411G>A (p.Gly471Ser)
|
|
|
NM_001384474.1(LOXHD1):c.1419C>A (p.Ile473=)
|
|
|
NM_001384474.1(LOXHD1):c.1419C>T (p.Ile473=)
|
rs545358723
|
|
NM_001384474.1(LOXHD1):c.1428T>C (p.Phe476=)
|
|
|
NM_001384474.1(LOXHD1):c.1431+11A>G
|
|
|
NM_001384474.1(LOXHD1):c.1431+1G>T
|
|
|
NM_001384474.1(LOXHD1):c.1432-20G>A
|
|
|
NM_001384474.1(LOXHD1):c.1432-2A>G
|
rs2144235927
|
|
NM_001384474.1(LOXHD1):c.1432-4A>G
|
rs2038192279
|
|
NM_001384474.1(LOXHD1):c.1432-5C>A
|
|
|
NM_001384474.1(LOXHD1):c.1432-5C>T
|
|
|
NM_001384474.1(LOXHD1):c.1432-8C>T
|
|
|
NM_001384474.1(LOXHD1):c.1437G>A (p.Glu479=)
|
|
|
NM_001384474.1(LOXHD1):c.1446T>C (p.Asp482=)
|
rs1241678757
|
|
NM_001384474.1(LOXHD1):c.1455G>A (p.Arg485=)
|
|
|
NM_001384474.1(LOXHD1):c.1461T>A (p.Tyr487Ter)
|
|
|
NM_001384474.1(LOXHD1):c.1475G>A (p.Trp492Ter)
|
rs2038190712
|
|
NM_001384474.1(LOXHD1):c.1476G>A (p.Trp492Ter)
|
|
|
NM_001384474.1(LOXHD1):c.1488G>A (p.Arg496=)
|
|
|
NM_001384474.1(LOXHD1):c.1490G>A (p.Ser497Asn)
|
|
|
NM_001384474.1(LOXHD1):c.1502G>T (p.Gly501Val)
|
|
|
NM_001384474.1(LOXHD1):c.1506G>A (p.Trp502Ter)
|
rs1599034650
|
|
NM_001384474.1(LOXHD1):c.1518+13A>G
|
|
|
NM_001384474.1(LOXHD1):c.1518+213dup
|
rs35665797
|
|
NM_001384474.1(LOXHD1):c.1518+7T>C
|
rs2144235207
|
|
NM_001384474.1(LOXHD1):c.1519-13A>G
|
|
|
NM_001384474.1(LOXHD1):c.1537_1538del (p.Leu513fs)
|
rs1555683951
|
|
NM_001384474.1(LOXHD1):c.1548C>T (p.Asp516=)
|
rs2144232276
|
|
NM_001384474.1(LOXHD1):c.1551G>A (p.Lys517=)
|
|
|
NM_001384474.1(LOXHD1):c.1560C>T (p.Phe520=)
|
|
|
NM_001384474.1(LOXHD1):c.1568del (p.Asn523fs)
|
|
|
NM_001384474.1(LOXHD1):c.1569C>A (p.Asn523Lys)
|
|
|
NM_001384474.1(LOXHD1):c.1576_1579del (p.Leu526fs)
|
|
|
NM_001384474.1(LOXHD1):c.1599T>C (p.Asn533=)
|
rs2038178460
|
|
NM_001384474.1(LOXHD1):c.159T>C (p.Asp53=)
|
rs980201296
|
|
NM_001384474.1(LOXHD1):c.159T>G (p.Asp53Glu)
|
|
|
NM_001384474.1(LOXHD1):c.1607_1610del (p.Val536fs)
|
|
|
NM_001384474.1(LOXHD1):c.1629C>T (p.Gly543=)
|
rs2144231633
|
|
NM_001384474.1(LOXHD1):c.1632A>G (p.Pro544=)
|
|
|
NM_001384474.1(LOXHD1):c.163C>T (p.Arg55Cys)
|
|
|
NM_001384474.1(LOXHD1):c.1641C>T (p.Arg547=)
|
|
|
NM_001384474.1(LOXHD1):c.1654+12C>T
|
|
|
NM_001384474.1(LOXHD1):c.1654+13A>T
|
|
|
NM_001384474.1(LOXHD1):c.1654+14G>A
|
|
|
NM_001384474.1(LOXHD1):c.1654+16C>A
|
|
|
NM_001384474.1(LOXHD1):c.1654+16C>T
|
|
|
NM_001384474.1(LOXHD1):c.1654+17T>A
|
|
|
NM_001384474.1(LOXHD1):c.1654+18C>G
|
|
|
NM_001384474.1(LOXHD1):c.1654+18C>T
|
|
|
NM_001384474.1(LOXHD1):c.1654+20C>T
|
|
|
NM_001384474.1(LOXHD1):c.1654+39_1654+51del
|
rs147255214
|
|
NM_001384474.1(LOXHD1):c.1654+8C>T
|
rs1434602260
|
|
NM_001384474.1(LOXHD1):c.1654+9T>G
|
rs2144231348
|
|
NM_001384474.1(LOXHD1):c.1655-13C>G
|
|
|
NM_001384474.1(LOXHD1):c.1655-17C>T
|
|
|
NM_001384474.1(LOXHD1):c.1655-18C>T
|
|
|
NM_001384474.1(LOXHD1):c.1655-19C>A
|
|
|
NM_001384474.1(LOXHD1):c.1655-20T>A
|
|
|
NM_001384474.1(LOXHD1):c.1655-4C>T
|
rs2144148018
|
|
NM_001384474.1(LOXHD1):c.1655-7C>T
|
|
|
NM_001384474.1(LOXHD1):c.1655-8C>T
|
|
|
NM_001384474.1(LOXHD1):c.1662G>A (p.Arg554=)
|
|
|
NM_001384474.1(LOXHD1):c.1674T>C (p.Thr558=)
|
rs2144147817
|
|
NM_001384474.1(LOXHD1):c.1684G>C (p.Gly562Arg)
|
rs2144147729
|
|
NM_001384474.1(LOXHD1):c.1695A>G (p.Glu565=)
|
rs2144147692
|
|
NM_001384474.1(LOXHD1):c.1701T>A (p.Ala567=)
|
|
|
NM_001384474.1(LOXHD1):c.1701T>C (p.Ala567=)
|
|
|
NM_001384474.1(LOXHD1):c.1708G>T (p.Asp570Tyr)
|
rs140437150
|
|
NM_001384474.1(LOXHD1):c.1716C>A (p.Asn572Lys)
|
rs147582935
|
|
NM_001384474.1(LOXHD1):c.1719C>T (p.Val573=)
|
rs2144147415
|
|
NM_001384474.1(LOXHD1):c.174G>A (p.Gly58=)
|
rs2144399778
|
|
NM_001384474.1(LOXHD1):c.1751C>G (p.Thr584Arg)
|
|
|
NM_001384474.1(LOXHD1):c.1751C>T (p.Thr584Met)
|
rs747842788
|
|
NM_001384474.1(LOXHD1):c.1759C>A (p.Arg587=)
|
rs540100675
|
|
NM_001384474.1(LOXHD1):c.1760G>A (p.Arg587Gln)
|
|
|
NM_001384474.1(LOXHD1):c.1770C>T (p.Tyr590=)
|
|
|
NM_001384474.1(LOXHD1):c.1776C>T (p.Cys592=)
|
|
|
NM_001384474.1(LOXHD1):c.177G>T (p.Thr59=)
|
rs116413527
|
|
NM_001384474.1(LOXHD1):c.1787C>G (p.Thr596Arg)
|
rs2144146851
|
|
NM_001384474.1(LOXHD1):c.1788A>G (p.Thr596=)
|
rs368683058
|
|
NM_001384474.1(LOXHD1):c.1794G>T (p.Leu598=)
|
rs2037925010
|
|
NM_001384474.1(LOXHD1):c.1802del (p.Lys601fs)
|
|
|
NM_001384474.1(LOXHD1):c.1809+15T>C
|
|
|
NM_001384474.1(LOXHD1):c.1809+16G>A
|
|
|
NM_001384474.1(LOXHD1):c.1809+19C>T
|
|
|
NM_001384474.1(LOXHD1):c.1809+20C>A
|
|
|
NM_001384474.1(LOXHD1):c.1809+6T>C
|
|
|
NM_001384474.1(LOXHD1):c.1809+7T>C
|
|
|
NM_001384474.1(LOXHD1):c.1810-11C>T
|
|
|
NM_001384474.1(LOXHD1):c.1810-14T>A
|
|
|
NM_001384474.1(LOXHD1):c.1810-14T>C
|
|
|
NM_001384474.1(LOXHD1):c.1810-1G>A
|
rs2144135103
|
|
NM_001384474.1(LOXHD1):c.1810-20T>C
|
|
|
NM_001384474.1(LOXHD1):c.1810-5A>G
|
|
|
NM_001384474.1(LOXHD1):c.1810-6C>A
|
rs199804946
|
|
NM_001384474.1(LOXHD1):c.1810-6C>G
|
rs199804946
|
|
NM_001384474.1(LOXHD1):c.1810-6C>T
|
rs199804946
|
|
NM_001384474.1(LOXHD1):c.1810-7C>T
|
|
|
NM_001384474.1(LOXHD1):c.1810-9C>T
|
rs2144135234
|
|
NM_001384474.1(LOXHD1):c.1816G>T (p.Glu606Ter)
|
|
|
NM_001384474.1(LOXHD1):c.183C>T (p.Ala61=)
|
|
|
NM_001384474.1(LOXHD1):c.1843C>T (p.Arg615Trp)
|
rs112463030
|
|
NM_001384474.1(LOXHD1):c.1843_1849del (p.Met614_Arg615insTer)
|
|
|
NM_001384474.1(LOXHD1):c.1848T>C (p.Asn616=)
|
|
|
NM_001384474.1(LOXHD1):c.1856G>A (p.Arg619Gln)
|
|
|
NM_001384474.1(LOXHD1):c.1860G>A (p.Val620=)
|
|
|
NM_001384474.1(LOXHD1):c.1866C>T (p.Ile622=)
|
|
|
NM_001384474.1(LOXHD1):c.1879A>C (p.Lys627Gln)
|
rs1131691796
|
|
NM_001384474.1(LOXHD1):c.1883del (p.Gly628fs)
|
rs2144134463
|
|
NM_001384474.1(LOXHD1):c.1890C>G (p.Gly630=)
|
rs2144134391
|
|
NM_001384474.1(LOXHD1):c.1894G>A (p.Gly632Ser)
|
rs35088381
|
|
NM_001384474.1(LOXHD1):c.1894G>T (p.Gly632Cys)
|
rs35088381
|
|
NM_001384474.1(LOXHD1):c.1906del (p.Asp636fs)
|
rs1190328421
|
|
NM_001384474.1(LOXHD1):c.1908del (p.Asp636fs)
|
rs2144134166
|
|
NM_001384474.1(LOXHD1):c.1926G>A (p.Glu642=)
|
|
|
NM_001384474.1(LOXHD1):c.1932G>A (p.Gly644=)
|
rs2037885734
|
|
NM_001384474.1(LOXHD1):c.1938T>C (p.Pro646=)
|
|
|
NM_001384474.1(LOXHD1):c.1951G>A (p.Val651Met)
|
rs769377709
|
|
NM_001384474.1(LOXHD1):c.1951G>C (p.Val651Leu)
|
rs769377709
|
|
NM_001384474.1(LOXHD1):c.1951G>T (p.Val651Leu)
|
rs769377709
|
|
NM_001384474.1(LOXHD1):c.1962A>T (p.Pro654=)
|
|
|
NM_001384474.1(LOXHD1):c.1963T>C (p.Cys655Arg)
|
rs2144133718
|
|
NM_001384474.1(LOXHD1):c.1970+164C>A
|
rs328166
|
|
NM_001384474.1(LOXHD1):c.1970+1G>A
|
rs2037884594
|
|
NM_001384474.1(LOXHD1):c.1970+2T>C
|
|
|
NM_001384474.1(LOXHD1):c.1970+7G>A
|
|
|
NM_001384474.1(LOXHD1):c.1971-16C>T
|
|
|
NM_001384474.1(LOXHD1):c.1971-18C>A
|
|
|
NM_001384474.1(LOXHD1):c.1971-2A>G
|
|
|
NM_001384474.1(LOXHD1):c.1971-6C>T
|
rs2144098195
|
|
NM_001384474.1(LOXHD1):c.1973G>A (p.Trp658Ter)
|
|
|
NM_001384474.1(LOXHD1):c.197C>T (p.Thr66Met)
|
rs199536893
|
|
NM_001384474.1(LOXHD1):c.1983G>A (p.Lys661=)
|
rs1432685528
|
|
NM_001384474.1(LOXHD1):c.1986T>C (p.Asp662=)
|
rs1599016381
|
|
NM_001384474.1(LOXHD1):c.1989G>A (p.Lys663=)
|
rs1599016368
|
|
NM_001384474.1(LOXHD1):c.1992T>A (p.Asp664Glu)
|
|
|
NM_001384474.1(LOXHD1):c.1992T>C (p.Asp664=)
|
rs1168914939
|
|
NM_001384474.1(LOXHD1):c.2002C>T (p.Leu668=)
|
|
|
NM_001384474.1(LOXHD1):c.2028C>T (p.Asp676=)
|
rs2037763439
|
|
NM_001384474.1(LOXHD1):c.2047+11C>T
|
|
|
NM_001384474.1(LOXHD1):c.2047+12T>G
|
|
|
NM_001384474.1(LOXHD1):c.2047+13G>A
|
|
|
NM_001384474.1(LOXHD1):c.2047+13G>C
|
|
|
NM_001384474.1(LOXHD1):c.2047+14del
|
|
|
NM_001384474.1(LOXHD1):c.2047+15T>C
|
|
|
NM_001384474.1(LOXHD1):c.2047+18C>A
|
|
|
NM_001384474.1(LOXHD1):c.2047+1G>A
|
|
|
NM_001384474.1(LOXHD1):c.2047+1G>T
|
rs867069460
|
|
NM_001384474.1(LOXHD1):c.2047+20A>G
|
|
|
NM_001384474.1(LOXHD1):c.2047+8G>T
|
rs1021749691
|
|
NM_001384474.1(LOXHD1):c.2048-10G>T
|
|
|
NM_001384474.1(LOXHD1):c.2048-14C>T
|
|
|
NM_001384474.1(LOXHD1):c.2048-18C>A
|
|
|
NM_001384474.1(LOXHD1):c.2048-6G>A
|
rs983264170
|
|
NM_001384474.1(LOXHD1):c.2048-6G>C
|
|
|
NM_001384474.1(LOXHD1):c.2048-7T>C
|
|
|
NM_001384474.1(LOXHD1):c.2052del (p.Arg685fs)
|
rs1198947482
|
|
NM_001384474.1(LOXHD1):c.2070G>A (p.Leu690=)
|
rs1030056893
|
|
NM_001384474.1(LOXHD1):c.2097C>T (p.Ser699=)
|
|
|
NM_001384474.1(LOXHD1):c.2100G>C (p.Thr700=)
|
|
|
NM_001384474.1(LOXHD1):c.2100G>T (p.Thr700=)
|
rs367826075
|
|
NM_001384474.1(LOXHD1):c.2112C>G (p.Val704=)
|
rs1017933129
|
|
NM_001384474.1(LOXHD1):c.211A>T (p.Asn71Tyr)
|
|
|
NM_001384474.1(LOXHD1):c.2127T>C (p.Tyr709=)
|
|
|
NM_001384474.1(LOXHD1):c.2130G>A (p.Gly710=)
|
rs2144082387
|
|
NM_001384474.1(LOXHD1):c.213T>C (p.Asn71=)
|
rs2144399597
|
|
NM_001384474.1(LOXHD1):c.2148C>A (p.Ile716=)
|
|
|
NM_001384474.1(LOXHD1):c.2150del (p.Lys717fs)
|
|
|
NM_001384474.1(LOXHD1):c.2158CTT[1] (p.Leu721del)
|
rs1555681376
|
|
NM_001384474.1(LOXHD1):c.2160T>C (p.Leu720=)
|
rs2144082260
|
|
NM_001384474.1(LOXHD1):c.2187C>T (p.Asp729=)
|
|
|
NM_001384474.1(LOXHD1):c.2193T>C (p.Phe731=)
|
|
|
NM_001384474.1(LOXHD1):c.21G>A (p.Arg7=)
|
rs2144418277
|
|
NM_001384474.1(LOXHD1):c.2217C>T (p.Phe739=)
|
rs2144081863
|
|
NM_001384474.1(LOXHD1):c.2223C>G (p.Leu741=)
|
rs199595156
|
|
NM_001384474.1(LOXHD1):c.2229C>T (p.Thr743=)
|
rs879242426
|
|
NM_001384474.1(LOXHD1):c.2235_2242del (p.Asn745fs)
|
|
|
NM_001384474.1(LOXHD1):c.2244+10C>T
|
|
|
NM_001384474.1(LOXHD1):c.2244+1G>A
|
rs1296156738
|
|
NM_001384474.1(LOXHD1):c.2244+2T>G
|
rs1555681351
|
|
NM_001384474.1(LOXHD1):c.2244+3A>G
|
|
|
NM_001384474.1(LOXHD1):c.2244+9C>T
|
rs2144081497
|
|
NM_001384474.1(LOXHD1):c.2245-10T>A
|
|
|
NM_001384474.1(LOXHD1):c.2245-14C>G
|
|
|
NM_001384474.1(LOXHD1):c.2245-14C>T
|
|
|
NM_001384474.1(LOXHD1):c.2245-16C>T
|
|
|
NM_001384474.1(LOXHD1):c.2245-17A>C
|
|
|
NM_001384474.1(LOXHD1):c.2245-17_2245-14del
|
|
|
NM_001384474.1(LOXHD1):c.2245-20C>T
|
|
|
NM_001384474.1(LOXHD1):c.2245-7C>T
|
rs1599011170
|
|
NM_001384474.1(LOXHD1):c.2251C>A (p.Arg751=)
|
rs376539851
|
|
NM_001384474.1(LOXHD1):c.2251C>T (p.Arg751Trp)
|
rs376539851
|
|
NM_001384474.1(LOXHD1):c.2259G>A (p.Val753=)
|
rs2144060863
|
|
NM_001384474.1(LOXHD1):c.2259G>C (p.Val753=)
|
rs2144060863
|
|
NM_001384474.1(LOXHD1):c.2265G>A (p.Gly755=)
|
|
|
NM_001384474.1(LOXHD1):c.2277T>C (p.Thr759=)
|
rs2144060713
|
|
NM_001384474.1(LOXHD1):c.2289del (p.Ser764fs)
|
rs2144060522
|
|
NM_001384474.1(LOXHD1):c.2298C>T (p.Phe766=)
|
|
|
NM_001384474.1(LOXHD1):c.229dup (p.Leu77fs)
|
rs2144399576
|
|
NM_001384474.1(LOXHD1):c.2303del (p.Gly768fs)
|
rs727503146
|
|
NM_001384474.1(LOXHD1):c.2322G>A (p.Val774=)
|
rs2144060273
|
|
NM_001384474.1(LOXHD1):c.2325C>T (p.Pro775=)
|
rs2144060229
|
|
NM_001384474.1(LOXHD1):c.2328T>C (p.Arg776=)
|
rs878918202
|
|
NM_001384474.1(LOXHD1):c.2329C>T (p.Gln777Ter)
|
rs2144060132
|
|
NM_001384474.1(LOXHD1):c.232del (p.Gln78fs)
|
rs1248034407
|
|
NM_001384474.1(LOXHD1):c.2355C>T (p.Ala785=)
|
|
|
NM_001384474.1(LOXHD1):c.2359C>T (p.Arg787Cys)
|
|
|
NM_001384474.1(LOXHD1):c.2391C>T (p.Arg797=)
|
rs2144059618
|
|
NM_001384474.1(LOXHD1):c.2401G>A (p.Glu801Lys)
|
|
|
NM_001384474.1(LOXHD1):c.2401G>T (p.Glu801Ter)
|
rs770068342
|
|
NM_001384474.1(LOXHD1):c.2406G>T (p.Leu802=)
|
rs1305236679
|
|
NM_001384474.1(LOXHD1):c.240C>T (p.Thr80=)
|
rs1198958401
|
|
NM_001384474.1(LOXHD1):c.2412C>A (p.Pro804=)
|
rs2144059448
|
|
NM_001384474.1(LOXHD1):c.2416G>T (p.Glu806Ter)
|
rs1368527802
|
|
NM_001384474.1(LOXHD1):c.2418G>A (p.Glu806=)
|
|
|
NM_001384474.1(LOXHD1):c.2427G>A (p.Glu809=)
|
|
|
NM_001384474.1(LOXHD1):c.2430C>T (p.Ile810=)
|
rs564006132
|
|
NM_001384474.1(LOXHD1):c.2431C>T (p.Gln811Ter)
|
rs2144059286
|
|
NM_001384474.1(LOXHD1):c.2437+11G>A
|
|
|
NM_001384474.1(LOXHD1):c.2437+17G>C
|
|
|
NM_001384474.1(LOXHD1):c.2437+1G>C
|
|
|
NM_001384474.1(LOXHD1):c.2437+7A>C
|
rs779013731
|
|
NM_001384474.1(LOXHD1):c.2437+8G>A
|
|
|
NM_001384474.1(LOXHD1):c.2437+9G>A
|
|
|
NM_001384474.1(LOXHD1):c.2438-12G>A
|
|
|
NM_001384474.1(LOXHD1):c.2438-13C>T
|
|
|
NM_001384474.1(LOXHD1):c.2438-14A>G
|
|
|
NM_001384474.1(LOXHD1):c.2438-15C>T
|
|
|
NM_001384474.1(LOXHD1):c.2438-19_2438-17del
|
|
|
NM_001384474.1(LOXHD1):c.2438-5C>T
|
|
|
NM_001384474.1(LOXHD1):c.2438-6A>C
|
|
|
NM_001384474.1(LOXHD1):c.2438-7C>T
|
|
|
NM_001384474.1(LOXHD1):c.2438-8C>T
|
|
|
NM_001384474.1(LOXHD1):c.2448T>C (p.Tyr816=)
|
rs1555680579
|
|
NM_001384474.1(LOXHD1):c.245+10C>A
|
rs1476582052
|
|
NM_001384474.1(LOXHD1):c.245+12C>T
|
|
|
NM_001384474.1(LOXHD1):c.245+17C>T
|
|
|
NM_001384474.1(LOXHD1):c.245+18C>G
|
|
|
NM_001384474.1(LOXHD1):c.245+2T>C
|
|
|
NM_001384474.1(LOXHD1):c.246-13G>A
|
|
|
NM_001384474.1(LOXHD1):c.246-1G>A
|
|
|
NM_001384474.1(LOXHD1):c.246-1G>T
|
|
|
NM_001384474.1(LOXHD1):c.246-7A>G
|
|
|
NM_001384474.1(LOXHD1):c.2466A>C (p.Thr822=)
|
rs2037566583
|
|
NM_001384474.1(LOXHD1):c.2475G>C (p.Val825=)
|
|
|
NM_001384474.1(LOXHD1):c.2484A>G (p.Ala828=)
|
rs2144036232
|
|
NM_001384474.1(LOXHD1):c.2498G>A (p.Arg833Gln)
|
|
|
NM_001384474.1(LOXHD1):c.249C>T (p.Ser83=)
|
|
|
NM_001384474.1(LOXHD1):c.2502C>A (p.Val834=)
|
|
|
NM_001384474.1(LOXHD1):c.2502C>G (p.Val834=)
|
rs2037565390
|
|
NM_001384474.1(LOXHD1):c.2502C>T (p.Val834=)
|
rs2037565390
|
|
NM_001384474.1(LOXHD1):c.2505C>T (p.Tyr835=)
|
|
|
NM_001384474.1(LOXHD1):c.2506A>C (p.Met836Leu)
|
|
|
NM_001384474.1(LOXHD1):c.2514C>A (p.Ile838=)
|
rs2144035896
|
|
NM_001384474.1(LOXHD1):c.2544C>T (p.Leu848=)
|
|
|
NM_001384474.1(LOXHD1):c.2545T>G (p.Phe849Val)
|
rs1336547898
|
|
NM_001384474.1(LOXHD1):c.2551_2552del (p.Ser851fs)
|
|
|
NM_001384474.1(LOXHD1):c.2557C>T (p.Arg853Cys)
|
rs202178613
|
|
NM_001384474.1(LOXHD1):c.2559C>T (p.Arg853=)
|
|
|
NM_001384474.1(LOXHD1):c.2562A>C (p.Ser854=)
|
|
|
NM_001384474.1(LOXHD1):c.2568T>A (p.Val856=)
|
|
|
NM_001384474.1(LOXHD1):c.2568T>C (p.Val856=)
|
rs2144035402
|
|
NM_001384474.1(LOXHD1):c.2596C>T (p.Gln866Ter)
|
rs2144035251
|
|
NM_001384474.1(LOXHD1):c.2598+13G>A
|
|
|
NM_001384474.1(LOXHD1):c.2598+1G>A
|
|
|
NM_001384474.1(LOXHD1):c.2598+1G>C
|
rs1555680544
|
|
NM_001384474.1(LOXHD1):c.2598+20G>A
|
|
|
NM_001384474.1(LOXHD1):c.2598+7G>A
|
|
|
NM_001384474.1(LOXHD1):c.2598+9G>T
|
rs1005684521
|
|
NM_001384474.1(LOXHD1):c.2599-18G>T
|
|
|
NM_001384474.1(LOXHD1):c.2599-19T>C
|
|
|
NM_001384474.1(LOXHD1):c.2599-8T>C
|
rs2144016545
|
|
NM_001384474.1(LOXHD1):c.2601T>C (p.Leu867=)
|
rs1599004432
|
|
NM_001384474.1(LOXHD1):c.2607G>A (p.Ala869=)
|
rs2037502650
|
|
NM_001384474.1(LOXHD1):c.2610C>T (p.Ala870=)
|
rs1466164772
|
|
NM_001384474.1(LOXHD1):c.2613C>T (p.Asp871=)
|
rs1204377432
|
|
NM_001384474.1(LOXHD1):c.2619C>T (p.Gly873=)
|
|
|
NM_001384474.1(LOXHD1):c.2622G>A (p.Glu874=)
|
rs2144016321
|
|
NM_001384474.1(LOXHD1):c.2630A>C (p.Lys877Thr)
|
|
|
NM_001384474.1(LOXHD1):c.2634C>G (p.Leu878=)
|
rs2144016195
|
|
NM_001384474.1(LOXHD1):c.2636G>A (p.Arg879Gln)
|
|
|
NM_001384474.1(LOXHD1):c.2636G>C (p.Arg879Pro)
|
|
|
NM_001384474.1(LOXHD1):c.2637G>T (p.Arg879=)
|
|
|
NM_001384474.1(LOXHD1):c.2638_2642del (p.Leu880fs)
|
|
|
NM_001384474.1(LOXHD1):c.2640C>G (p.Leu880=)
|
rs374614343
|
|
NM_001384474.1(LOXHD1):c.2641G>A (p.Gly881Arg)
|
|
|
NM_001384474.1(LOXHD1):c.2645_2652del (p.His882fs)
|
|
|
NM_001384474.1(LOXHD1):c.2649G>C (p.Thr883=)
|
rs1393378453
|
|
NM_001384474.1(LOXHD1):c.2649G>T (p.Thr883=)
|
rs1393378453
|
|
NM_001384474.1(LOXHD1):c.264G>A (p.Glu88=)
|
|
|
NM_001384474.1(LOXHD1):c.2652C>A (p.Gly884=)
|
rs886139298
|
|
NM_001384474.1(LOXHD1):c.2664G>C (p.Gly888=)
|
rs773487745
|
|
NM_001384474.1(LOXHD1):c.2665C>G (p.Pro889Ala)
|
|
|
NM_001384474.1(LOXHD1):c.2667del (p.Ser890fs)
|
rs2037500230
|
|
NM_001384474.1(LOXHD1):c.2679G>A (p.Val893=)
|
rs1599004172
|
|
NM_001384474.1(LOXHD1):c.2685C>T (p.Thr895=)
|
|
|
NM_001384474.1(LOXHD1):c.2686G>A (p.Val896Met)
|
|
|
NM_001384474.1(LOXHD1):c.2691G>A (p.Trp897Ter)
|
rs2144015428
|
|
NM_001384474.1(LOXHD1):c.2695C>T (p.Arg899Trp)
|
|
|
NM_001384474.1(LOXHD1):c.2696G>A (p.Arg899Gln)
|
rs745683775
|
|
NM_001384474.1(LOXHD1):c.2696G>C (p.Arg899Pro)
|
rs745683775
|
|
NM_001384474.1(LOXHD1):c.2707G>A (p.Val903Met)
|
|
|
NM_001384474.1(LOXHD1):c.2711G>A (p.Arg904Gln)
|
|
|
NM_001384474.1(LOXHD1):c.2713G>T (p.Glu905Ter)
|
|
|
NM_001384474.1(LOXHD1):c.2724C>T (p.Leu908=)
|
rs2144014969
|
|
NM_001384474.1(LOXHD1):c.2736G>A (p.Glu912=)
|
rs2037497334
|
|
NM_001384474.1(LOXHD1):c.2737G>T (p.Glu913Ter)
|
|
|
NM_001384474.1(LOXHD1):c.2751G>A (p.Lys917=)
|
|
|
NM_001384474.1(LOXHD1):c.2766G>A (p.Lys922=)
|
rs552637512
|
|
NM_001384474.1(LOXHD1):c.2767C>T (p.Leu923=)
|
rs2037495904
|
|
NM_001384474.1(LOXHD1):c.2767del (p.Leu923fs)
|
|
|
NM_001384474.1(LOXHD1):c.2771G>A (p.Arg924Gln)
|
|
|
NM_001384474.1(LOXHD1):c.2772G>T (p.Arg924=)
|
rs2144014292
|
|
NM_001384474.1(LOXHD1):c.2773C>T (p.Gln925Ter)
|
rs2037495535
|
|
NM_001384474.1(LOXHD1):c.2793G>T (p.Arg931=)
|
|
|
NM_001384474.1(LOXHD1):c.2805G>A (p.Lys935=)
|
|
|
NM_001384474.1(LOXHD1):c.2806C>T (p.Leu936=)
|
rs997603211
|
|
NM_001384474.1(LOXHD1):c.2813G>A (p.Arg938Lys)
|
rs386352326
|
|
NM_001384474.1(LOXHD1):c.2815A>T (p.Lys939Ter)
|
|
|
NM_001384474.1(LOXHD1):c.2816AGA[3] (p.Lys942del)
|
rs142960762
|
|
NM_001384474.1(LOXHD1):c.2820G>A (p.Lys940=)
|
rs2144013672
|
|
NM_001384474.1(LOXHD1):c.282G>C (p.Val94=)
|
|
|
NM_001384474.1(LOXHD1):c.2838C>T (p.Ser946=)
|
rs947223183
|
|
NM_001384474.1(LOXHD1):c.2847G>A (p.Glu949=)
|
rs1323581046
|
|
NM_001384474.1(LOXHD1):c.2856G>A (p.Gly952=)
|
rs1599003598
|
|
NM_001384474.1(LOXHD1):c.2861A>G (p.Glu954Gly)
|
|
|
NM_001384474.1(LOXHD1):c.2868G>A (p.Glu956=)
|
rs2144012949
|
|
NM_001384474.1(LOXHD1):c.2870C>A (p.Ser957Ter)
|
rs1440105492
|
|
NM_001384474.1(LOXHD1):c.2874_2891dup (p.Ser960_Ser965dup)
|
rs759237437
|
|
NM_001384474.1(LOXHD1):c.2879C>A (p.Ser960Ter)
|
rs1290539447
|
|
NM_001384474.1(LOXHD1):c.2879C>G (p.Ser960Ter)
|
|
|
NM_001384474.1(LOXHD1):c.2879C>T (p.Ser960Leu)
|
|
|
NM_001384474.1(LOXHD1):c.2883G>A (p.Glu961=)
|
|
|
NM_001384474.1(LOXHD1):c.2886G>A (p.Glu962=)
|
|
|
NM_001384474.1(LOXHD1):c.2889C>T (p.Ser963=)
|
|
|
NM_001384474.1(LOXHD1):c.2892G>C (p.Ser964=)
|
rs561687256
|
|
NM_001384474.1(LOXHD1):c.2898G>A (p.Glu966=)
|
rs1395182788
|
|
NM_001384474.1(LOXHD1):c.28AAG[1] (p.Lys11del)
|
rs763989894
|
|
NM_001384474.1(LOXHD1):c.2907G>A (p.Glu969=)
|
rs886053831
|
|
NM_001384474.1(LOXHD1):c.2913dup (p.Glu972fs)
|
rs974766727
|
|
NM_001384474.1(LOXHD1):c.2916AGAGGAGGA[1] (p.Glu976_Glu978del)
|
rs765944082
|
|
NM_001384474.1(LOXHD1):c.2919G>A (p.Glu973=)
|
|
|
NM_001384474.1(LOXHD1):c.2920G>A (p.Glu974Lys)
|
|
|
NM_001384474.1(LOXHD1):c.2925A>G (p.Glu975=)
|
|
|
NM_001384474.1(LOXHD1):c.2934G>A (p.Glu978=)
|
rs2144011741
|
|
NM_001384474.1(LOXHD1):c.2938G>T (p.Gly980Trp)
|
|
|
NM_001384474.1(LOXHD1):c.2946G>A (p.Gly982=)
|
rs2144011563
|
|
NM_001384474.1(LOXHD1):c.2958G>A (p.Val986=)
|
|
|
NM_001384474.1(LOXHD1):c.2971A>G (p.Lys991Glu)
|
|
|
NM_001384474.1(LOXHD1):c.2973G>A (p.Lys991=)
|
rs2144011222
|
|
NM_001384474.1(LOXHD1):c.2977G>T (p.Glu993Ter)
|
|
|
NM_001384474.1(LOXHD1):c.2982C>T (p.Ala994=)
|
|
|
NM_001384474.1(LOXHD1):c.2986C>T (p.Arg996Cys)
|
|
|
NM_001384474.1(LOXHD1):c.2992C>T (p.Leu998=)
|
|
|
NM_001384474.1(LOXHD1):c.2998C>A (p.Arg1000=)
|
|
|
NM_001384474.1(LOXHD1):c.3024C>A (p.Val1008=)
|
rs370616818
|
|
NM_001384474.1(LOXHD1):c.3036G>A (p.Val1012=)
|
|
|
NM_001384474.1(LOXHD1):c.3048G>A (p.Lys1016=)
|
rs2144010326
|
|
NM_001384474.1(LOXHD1):c.3050C>T (p.Pro1017Leu)
|
|
|
NM_001384474.1(LOXHD1):c.3053del (p.Gly1018fs)
|
|
|
NM_001384474.1(LOXHD1):c.3061+11C>T
|
|
|
NM_001384474.1(LOXHD1):c.3061+12G>T
|
|
|
NM_001384474.1(LOXHD1):c.3061+16G>A
|
|
|
NM_001384474.1(LOXHD1):c.3061+16G>T
|
|
|
NM_001384474.1(LOXHD1):c.3061+18G>A
|
|
|
NM_001384474.1(LOXHD1):c.3061+19G>C
|
|
|
NM_001384474.1(LOXHD1):c.3061+19G>T
|
|
|
NM_001384474.1(LOXHD1):c.3061+19del
|
|
|
NM_001384474.1(LOXHD1):c.3061+1G>C
|
|
|
NM_001384474.1(LOXHD1):c.3061+1G>T
|
rs537227442
|
|
NM_001384474.1(LOXHD1):c.3062-18A>G
|
|
|
NM_001384474.1(LOXHD1):c.3062-19C>A
|
|
|
NM_001384474.1(LOXHD1):c.3062-2A>G
|
|
|
NM_001384474.1(LOXHD1):c.3062-4A>G
|
|
|
NM_001384474.1(LOXHD1):c.3062-5del
|
rs2144004407
|
|
NM_001384474.1(LOXHD1):c.3062-8G>A
|
rs2144004462
|
|
NM_001384474.1(LOXHD1):c.3066C>T (p.Asn1022=)
|
|
|
NM_001384474.1(LOXHD1):c.3069C>T (p.Thr1023=)
|
|
|
NM_001384474.1(LOXHD1):c.306G>A (p.Val102=)
|
|
|
NM_001384474.1(LOXHD1):c.3072T>A (p.Tyr1024Ter)
|
|
|
NM_001384474.1(LOXHD1):c.3079C>T (p.Gln1027Ter)
|
|
|
NM_001384474.1(LOXHD1):c.3084G>T (p.Val1028=)
|
rs2144004083
|
|
NM_001384474.1(LOXHD1):c.3087C>A (p.Val1029=)
|
|
|
NM_001384474.1(LOXHD1):c.3089C>T (p.Thr1030Met)
|
|
|
NM_001384474.1(LOXHD1):c.3092G>A (p.Gly1031Glu)
|
|
|
NM_001384474.1(LOXHD1):c.3093G>A (p.Gly1031=)
|
rs2037466032
|
|
NM_001384474.1(LOXHD1):c.3094_3095insT (p.Asn1032fs)
|
rs2144003933
|
|
NM_001384474.1(LOXHD1):c.3096T>C (p.Asn1032=)
|
|
|
NM_001384474.1(LOXHD1):c.3099G>A (p.Val1033=)
|
|
|
NM_001384474.1(LOXHD1):c.3102C>T (p.Pro1034=)
|
rs2144003792
|
|
NM_001384474.1(LOXHD1):c.3117T>C (p.Asp1039=)
|
rs1568184171
|
|
NM_001384474.1(LOXHD1):c.3124G>A (p.Val1042Ile)
|
|
|
NM_001384474.1(LOXHD1):c.312C>T (p.Leu104=)
|
rs2144381845
|
|
NM_001384474.1(LOXHD1):c.3135C>T (p.Thr1045=)
|
|
|
NM_001384474.1(LOXHD1):c.3137T>C (p.Ile1046Thr)
|
|
|
NM_001384474.1(LOXHD1):c.3145G>A (p.Glu1049Lys)
|
rs727504468
|
|
NM_001384474.1(LOXHD1):c.3148G>T (p.Glu1050Ter)
|
rs1555679863
|
|
NM_001384474.1(LOXHD1):c.3159C>T (p.Asp1053=)
|
rs2144002976
|
|
NM_001384474.1(LOXHD1):c.3162G>C (p.Thr1054=)
|
|
|
NM_001384474.1(LOXHD1):c.3165C>A (p.Gly1055=)
|
rs768431469
|
|
NM_001384474.1(LOXHD1):c.3168A>G (p.Glu1056=)
|
|
|
NM_001384474.1(LOXHD1):c.3172C>A (p.Pro1058Thr)
|
|
|
NM_001384474.1(LOXHD1):c.3177G>A (p.Leu1059=)
|
|
|
NM_001384474.1(LOXHD1):c.317A>G (p.Tyr106Cys)
|
|
|
NM_001384474.1(LOXHD1):c.3182del (p.Lys1061fs)
|
|
|
NM_001384474.1(LOXHD1):c.3192G>A (p.Lys1064=)
|
|
|
NM_001384474.1(LOXHD1):c.3198C>T (p.Asn1066=)
|
rs2144002359
|
|
NM_001384474.1(LOXHD1):c.3213G>C (p.Gly1071=)
|
rs1414339716
|
|
NM_001384474.1(LOXHD1):c.3216+16C>G
|
|
|
NM_001384474.1(LOXHD1):c.3216+17T>A
|
|
|
NM_001384474.1(LOXHD1):c.3216+18G>A
|
|
|
NM_001384474.1(LOXHD1):c.3216+19G>A
|
|
|
NM_001384474.1(LOXHD1):c.3216+1G>T
|
rs2144002229
|
|
NM_001384474.1(LOXHD1):c.3217-14del
|
|
|
NM_001384474.1(LOXHD1):c.3217-16C>T
|
|
|
NM_001384474.1(LOXHD1):c.3217-19G>A
|
|
|
NM_001384474.1(LOXHD1):c.3217-5C>T
|
|
|
NM_001384474.1(LOXHD1):c.3225C>T (p.Thr1075=)
|
rs1229456411
|
|
NM_001384474.1(LOXHD1):c.3231C>T (p.Thr1077=)
|
rs2143976174
|
|
NM_001384474.1(LOXHD1):c.3247del (p.Leu1083fs)
|
rs2143975906
|
|
NM_001384474.1(LOXHD1):c.3252G>C (p.Gly1084=)
|
|
|
NM_001384474.1(LOXHD1):c.3255C>T (p.Ala1085=)
|
|
|
NM_001384474.1(LOXHD1):c.326+12G>A
|
|
|
NM_001384474.1(LOXHD1):c.326+13C>T
|
|
|
NM_001384474.1(LOXHD1):c.326+14G>A
|
|
|
NM_001384474.1(LOXHD1):c.326+15C>T
|
|
|
NM_001384474.1(LOXHD1):c.326+17T>C
|
|
|
NM_001384474.1(LOXHD1):c.326+7A>G
|
|
|
NM_001384474.1(LOXHD1):c.327-1G>A
|
rs2144376621
|
|
NM_001384474.1(LOXHD1):c.327-20G>A
|
|
|
NM_001384474.1(LOXHD1):c.327-2A>G
|
rs2038940533
|
|
NM_001384474.1(LOXHD1):c.327-5C>T
|
rs1599069198
|
|
NM_001384474.1(LOXHD1):c.3277C>T (p.His1093Tyr)
|
|
|
NM_001384474.1(LOXHD1):c.3280_3282del (p.Asp1094del)
|
|
|
NM_001384474.1(LOXHD1):c.3281A>C (p.Asp1094Ala)
|
|
|
NM_001384474.1(LOXHD1):c.3281A>G (p.Asp1094Gly)
|
rs543098936
|
|
NM_001384474.1(LOXHD1):c.3282C>T (p.Asp1094=)
|
rs1431897813
|
|
NM_001384474.1(LOXHD1):c.3287_3295del (p.Thr1096_Asn1098del)
|
rs1488153218
|
|
NM_001384474.1(LOXHD1):c.3299C>A (p.Ala1100Glu)
|
|
|
NM_001384474.1(LOXHD1):c.3300A>G (p.Ala1100=)
|
|
|
NM_001384474.1(LOXHD1):c.3315C>T (p.Asp1105=)
|
|
|
NM_001384474.1(LOXHD1):c.3325A>T (p.Ile1109Phe)
|
|
|
NM_001384474.1(LOXHD1):c.3327T>C (p.Ile1109=)
|
rs2037386172
|
|
NM_001384474.1(LOXHD1):c.3330_3333del (p.Thr1110_Asp1111insTer)
|
rs2143974313
|
|
NM_001384474.1(LOXHD1):c.3339C>T (p.Asn1113=)
|
|
|
NM_001384474.1(LOXHD1):c.3350+10G>A
|
|
|
NM_001384474.1(LOXHD1):c.3350+10G>C
|
rs2143973786
|
|
NM_001384474.1(LOXHD1):c.3350+10_3350+11insCA
|
|
|
NM_001384474.1(LOXHD1):c.3350+13del
|
|
|
NM_001384474.1(LOXHD1):c.3350+14C>A
|
|
|
NM_001384474.1(LOXHD1):c.3350+17T>A
|
|
|
NM_001384474.1(LOXHD1):c.3350+19G>A
|
|
|
NM_001384474.1(LOXHD1):c.3350+1G>A
|
rs1301706601
|
|
NM_001384474.1(LOXHD1):c.3350+1G>C
|
rs1301706601
|
|
NM_001384474.1(LOXHD1):c.3350+20G>A
|
|
|
NM_001384474.1(LOXHD1):c.3350+7G>C
|
rs750477568
|
|
NM_001384474.1(LOXHD1):c.3350+8T>G
|
|
|
NM_001384474.1(LOXHD1):c.3350+92G>A
|
rs139052361
|
|
NM_001384474.1(LOXHD1):c.3350+9G>A
|
rs1171712617
|
|
NM_001384474.1(LOXHD1):c.3351-11C>T
|
|
|
NM_001384474.1(LOXHD1):c.3351-12C>A
|
|
|
NM_001384474.1(LOXHD1):c.3351-12C>G
|
|
|
NM_001384474.1(LOXHD1):c.3351-14A>C
|
|
|
NM_001384474.1(LOXHD1):c.3351-14A>G
|
|
|
NM_001384474.1(LOXHD1):c.3351-15T>C
|
|
|
NM_001384474.1(LOXHD1):c.3351-1G>A
|
rs868646051
|
|
NM_001384474.1(LOXHD1):c.3351-1G>C
|
rs868646051
|
|
NM_001384474.1(LOXHD1):c.3351-20T>C
|
|
|
NM_001384474.1(LOXHD1):c.3351-5C>T
|
|
|
NM_001384474.1(LOXHD1):c.3351-5dup
|
rs1568169284
|
|
NM_001384474.1(LOXHD1):c.3351-8C>T
|
|
|
NM_001384474.1(LOXHD1):c.3357C>T (p.Tyr1119=)
|
rs2143825161
|
|
NM_001384474.1(LOXHD1):c.3375G>A (p.Trp1125Ter)
|
|
|
NM_001384474.1(LOXHD1):c.3376C>T (p.Leu1126=)
|
rs1305649238
|
|
NM_001384474.1(LOXHD1):c.337G>A (p.Asp113Asn)
|
|
|
NM_001384474.1(LOXHD1):c.3384G>A (p.Val1128=)
|
rs2143824700
|
|
NM_001384474.1(LOXHD1):c.3387G>A (p.Glu1129=)
|
|
|
NM_001384474.1(LOXHD1):c.3392A>T (p.Asp1131Val)
|
|
|
NM_001384474.1(LOXHD1):c.3396T>C (p.Asp1132=)
|
rs1299522610
|
|
NM_001384474.1(LOXHD1):c.3399C>T (p.Gly1133=)
|
|
|
NM_001384474.1(LOXHD1):c.33G>A (p.Lys11=)
|
rs2144418239
|
|
NM_001384474.1(LOXHD1):c.3401_3404dup (p.Ser1136fs)
|
rs2143824066
|
|
NM_001384474.1(LOXHD1):c.3402G>A (p.Gln1134=)
|
|
|
NM_001384474.1(LOXHD1):c.3408C>A (p.Ser1136=)
|
|
|
NM_001384474.1(LOXHD1):c.3415C>A (p.Leu1139Met)
|
rs1254285738
|
|
NM_001384474.1(LOXHD1):c.3419dup (p.Leu1140fs)
|
|
|
NM_001384474.1(LOXHD1):c.3442C>T (p.Leu1148=)
|
rs2036871572
|
|
NM_001384474.1(LOXHD1):c.3444G>A (p.Leu1148=)
|
rs2143822989
|
|
NM_001384474.1(LOXHD1):c.3455A>T (p.Glu1152Val)
|
|
|
NM_001384474.1(LOXHD1):c.3480C>T (p.Asn1160=)
|
rs1244479583
|
|
NM_001384474.1(LOXHD1):c.3486C>T (p.Pro1162=)
|
rs1284977751
|
|
NM_001384474.1(LOXHD1):c.3489C>G (p.Leu1163=)
|
|
|
NM_001384474.1(LOXHD1):c.3496C>T (p.Leu1166=)
|
rs1338708911
|
|
NM_001384474.1(LOXHD1):c.3501C>T (p.Ala1167=)
|
rs1332131829
|
|
NM_001384474.1(LOXHD1):c.3505G>T (p.Glu1169Ter)
|
rs2143821653
|
|
NM_001384474.1(LOXHD1):c.3514+10A>G
|
|
|
NM_001384474.1(LOXHD1):c.3514+11C>T
|
|
|
NM_001384474.1(LOXHD1):c.3514+17C>T
|
|
|
NM_001384474.1(LOXHD1):c.3514+1G>C
|
|
|
NM_001384474.1(LOXHD1):c.3514+7del
|
|
|
NM_001384474.1(LOXHD1):c.3515-10C>T
|
|
|
NM_001384474.1(LOXHD1):c.3515-18del
|
|
|
NM_001384474.1(LOXHD1):c.3515-6del
|
rs2144402079
|
|
NM_001384474.1(LOXHD1):c.3515-8C>T
|
|
|
NM_001384474.1(LOXHD1):c.3519del (p.Lys1173fs)
|
|
|
NM_001384474.1(LOXHD1):c.3521_3522delinsGA (p.Ser1174Ter)
|
|
|
NM_001384474.1(LOXHD1):c.3528A>G (p.Thr1176=)
|
rs937371282
|
|
NM_001384474.1(LOXHD1):c.3528A>T (p.Thr1176=)
|
|
|
NM_001384474.1(LOXHD1):c.3549T>G (p.Thr1183=)
|
rs543046319
|
|
NM_001384474.1(LOXHD1):c.3549_3550del (p.Gly1184_Val1185insTer)
|
|
|
NM_001384474.1(LOXHD1):c.354T>C (p.Asn118=)
|
|
|
NM_001384474.1(LOXHD1):c.3567G>C (p.Ala1189=)
|
|
|
NM_001384474.1(LOXHD1):c.3569G>A (p.Gly1190Asp)
|
|
|
NM_001384474.1(LOXHD1):c.3570C>T (p.Gly1190=)
|
|
|
NM_001384474.1(LOXHD1):c.3570_3571insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAAGAATGCGGGC (p.Thr1191fs)
|
rs2144401197
|
|
NM_001384474.1(LOXHD1):c.3573del (p.Asp1192fs)
|
rs2144401070
|
|
NM_001384474.1(LOXHD1):c.3579T>A (p.Ala1193=)
|
|
|
NM_001384474.1(LOXHD1):c.3584del (p.Val1195fs)
|
|
|
NM_001384474.1(LOXHD1):c.3585C>G (p.Val1195=)
|
|
|
NM_001384474.1(LOXHD1):c.3594A>C (p.Thr1198=)
|
rs763256484
|
|
NM_001384474.1(LOXHD1):c.3615C>T (p.Asp1205=)
|
rs1034265787
|
|
NM_001384474.1(LOXHD1):c.3619+10C>A
|
rs759674947
|
|
NM_001384474.1(LOXHD1):c.3619+10C>G
|
rs759674947
|
|
NM_001384474.1(LOXHD1):c.3619+10C>T
|
|
|
NM_001384474.1(LOXHD1):c.3619+12G>A
|
|
|
NM_001384474.1(LOXHD1):c.3619+14G>T
|
|
|
NM_001384474.1(LOXHD1):c.3619+16A>G
|
|
|
NM_001384474.1(LOXHD1):c.3619+9G>A
|
rs576031049
|
|
NM_001384474.1(LOXHD1):c.3620-12T>C
|
|
|
NM_001384474.1(LOXHD1):c.3620-13A>G
|
|
|
NM_001384474.1(LOXHD1):c.3620-14C>T
|
|
|
NM_001384474.1(LOXHD1):c.3620-16G>A
|
|
|
NM_001384474.1(LOXHD1):c.3620-17G>T
|
|
|
NM_001384474.1(LOXHD1):c.3620-5C>T
|
|
|
NM_001384474.1(LOXHD1):c.3620-6C>A
|
|
|
NM_001384474.1(LOXHD1):c.3620-6C>T
|
|
|
NM_001384474.1(LOXHD1):c.3626C>T (p.Thr1209Ile)
|
rs727504804
|
|
NM_001384474.1(LOXHD1):c.3630C>T (p.Leu1210=)
|
rs2036622463
|
|
NM_001384474.1(LOXHD1):c.3642C>T (p.Ser1214=)
|
|
|
NM_001384474.1(LOXHD1):c.3651C>T (p.Asn1217=)
|
rs2144371865
|
|
NM_001384474.1(LOXHD1):c.3658A>C (p.Lys1220Gln)
|
rs2144371667
|
|
NM_001384474.1(LOXHD1):c.3678T>C (p.Ile1226=)
|
|
|
NM_001384474.1(LOXHD1):c.3684C>T (p.Ile1228=)
|
rs373013775
|
|
NM_001384474.1(LOXHD1):c.3689C>G (p.Thr1230Arg)
|
|
|
NM_001384474.1(LOXHD1):c.3689C>T (p.Thr1230Met)
|
rs546426989
|
|
NM_001384474.1(LOXHD1):c.369G>A (p.Leu123=)
|
rs2144376516
|
|
NM_001384474.1(LOXHD1):c.3712G>T (p.Asp1238Tyr)
|
rs2144370861
|
|
NM_001384474.1(LOXHD1):c.3721A>G (p.Lys1241Glu)
|
rs1184887396
|
|
NM_001384474.1(LOXHD1):c.3727C>A (p.Arg1243=)
|
rs369695848
|
|
NM_001384474.1(LOXHD1):c.3729G>C (p.Arg1243=)
|
rs1159207356
|
|
NM_001384474.1(LOXHD1):c.372C>T (p.Asp124=)
|
|
|
NM_001384474.1(LOXHD1):c.3732T>A (p.Leu1244=)
|
rs1472341746
|
|
NM_001384474.1(LOXHD1):c.3744C>T (p.Asn1248=)
|
|
|
NM_001384474.1(LOXHD1):c.3748+10C>T
|
|
|
NM_001384474.1(LOXHD1):c.3748+14C>T
|
|
|
NM_001384474.1(LOXHD1):c.3748+16C>T
|
|
|
NM_001384474.1(LOXHD1):c.3748+17C>T
|
|
|
NM_001384474.1(LOXHD1):c.3748+1G>A
|
|
|
NM_001384474.1(LOXHD1):c.3748+1G>C
|
rs2144370278
|
|
NM_001384474.1(LOXHD1):c.3748+1_3748+3del
|
|
|
NM_001384474.1(LOXHD1):c.3748+9T>C
|
|
|
NM_001384474.1(LOXHD1):c.3748G>A (p.Gly1250Ser)
|
|
|
NM_001384474.1(LOXHD1):c.3749-107A>G
|
rs10775482
|
|
NM_001384474.1(LOXHD1):c.3749-10C>G
|
|
|
NM_001384474.1(LOXHD1):c.3749-11T>C
|
|
|
NM_001384474.1(LOXHD1):c.3749-12CT[4]
|
rs2144362178
|
|
NM_001384474.1(LOXHD1):c.3749-19G>A
|
|
|
NM_001384474.1(LOXHD1):c.3749-19G>T
|
|
|
NM_001384474.1(LOXHD1):c.3749-20del
|
|
|
NM_001384474.1(LOXHD1):c.3749-5T>C
|
|
|
NM_001384474.1(LOXHD1):c.3750C>T (p.Gly1250=)
|
|
|
NM_001384474.1(LOXHD1):c.3753G>A (p.Lys1251=)
|
rs1598957158
|
|
NM_001384474.1(LOXHD1):c.3765G>A (p.Trp1255Ter)
|
|
|
NM_001384474.1(LOXHD1):c.3771A>G (p.Val1257=)
|
|
|
NM_001384474.1(LOXHD1):c.3774C>T (p.Asp1258=)
|
|
|
NM_001384474.1(LOXHD1):c.3780A>G (p.Val1260=)
|
|
|
NM_001384474.1(LOXHD1):c.3781G>T (p.Glu1261Ter)
|
rs2144361735
|
|
NM_001384474.1(LOXHD1):c.3783G>A (p.Glu1261=)
|
rs1598957046
|
|
NM_001384474.1(LOXHD1):c.378G>C (p.Val126=)
|
|
|
NM_001384474.1(LOXHD1):c.3798T>C (p.Ser1266=)
|
|
|
NM_001384474.1(LOXHD1):c.3800T>C (p.Leu1267Pro)
|
rs2144361359
|
|
NM_001384474.1(LOXHD1):c.3807G>A (p.Lys1269=)
|
|
|
NM_001384474.1(LOXHD1):c.3810C>T (p.Cys1270=)
|
|
|
NM_001384474.1(LOXHD1):c.3816G>T (p.Thr1272=)
|
rs1031241585
|
|
NM_001384474.1(LOXHD1):c.3822C>G (p.Pro1274=)
|
rs764092184
|
|
NM_001384474.1(LOXHD1):c.3832T>C (p.Trp1278Arg)
|
|
|
NM_001384474.1(LOXHD1):c.3847G>T (p.Glu1283Ter)
|
rs373541883
|
|
NM_001384474.1(LOXHD1):c.3854_3857dup (p.Ser1287fs)
|
|
|
NM_001384474.1(LOXHD1):c.3856G>A (p.Gly1286Arg)
|
|
|
NM_001384474.1(LOXHD1):c.3882T>C (p.His1294=)
|
rs755329131
|
|
NM_001384474.1(LOXHD1):c.3885A>G (p.Ala1295=)
|
|
|
NM_001384474.1(LOXHD1):c.3897G>C (p.Thr1299=)
|
|
|
NM_001384474.1(LOXHD1):c.3898A>G (p.Arg1300Gly)
|
|
|
NM_001384474.1(LOXHD1):c.3901C>T (p.Leu1301=)
|
rs2036570604
|
|
NM_001384474.1(LOXHD1):c.3903G>A (p.Leu1301=)
|
|
|
NM_001384474.1(LOXHD1):c.3906C>T (p.Tyr1302=)
|
rs2036570147
|
|
NM_001384474.1(LOXHD1):c.390C>T (p.Asp130=)
|
rs1197591461
|
|
NM_001384474.1(LOXHD1):c.3913+10A>C
|
rs1598956372
|
|
NM_001384474.1(LOXHD1):c.3913+10A>G
|
rs1598956372
|
|
NM_001384474.1(LOXHD1):c.3913+12A>C
|
|
|
NM_001384474.1(LOXHD1):c.3913+14A>G
|
|
|
NM_001384474.1(LOXHD1):c.3913+15C>T
|
|
|
NM_001384474.1(LOXHD1):c.3913+16G>A
|
|
|
NM_001384474.1(LOXHD1):c.3913+17G>A
|
|
|
NM_001384474.1(LOXHD1):c.3913+18C>A
|
|
|
NM_001384474.1(LOXHD1):c.3913+2T>A
|
rs901636863
|
|
NM_001384474.1(LOXHD1):c.3913+2T>C
|
|
|
NM_001384474.1(LOXHD1):c.3914-13C>A
|
|
|
NM_001384474.1(LOXHD1):c.3914-15G>C
|
|
|
NM_001384474.1(LOXHD1):c.3914-18T>G
|
|
|
NM_001384474.1(LOXHD1):c.3914-1G>A
|
rs2036406936
|
|
NM_001384474.1(LOXHD1):c.3914-20C>T
|
|
|
NM_001384474.1(LOXHD1):c.3914-6C>T
|
rs1598948239
|
|
NM_001384474.1(LOXHD1):c.3914-7C>T
|
rs2144324100
|
|
NM_001384474.1(LOXHD1):c.3914-8A>G
|
|
|
NM_001384474.1(LOXHD1):c.3916_3922del (p.Val1306fs)
|
rs1419749403
|
|
NM_001384474.1(LOXHD1):c.3924C>A (p.Tyr1308Ter)
|
rs184966970
|
|
NM_001384474.1(LOXHD1):c.3934del (p.Leu1312fs)
|
|
|
NM_001384474.1(LOXHD1):c.3941C>G (p.Thr1314Ser)
|
rs182125538
|
|
NM_001384474.1(LOXHD1):c.3942C>A (p.Thr1314=)
|
rs948768782
|
|
NM_001384474.1(LOXHD1):c.3945T>C (p.Ser1315=)
|
|
|
NM_001384474.1(LOXHD1):c.3949G>A (p.Val1317Ile)
|
|
|
NM_001384474.1(LOXHD1):c.3951C>T (p.Val1317=)
|
rs779507390
|
|
NM_001384474.1(LOXHD1):c.3960T>A (p.Ala1320=)
|
|
|
NM_001384474.1(LOXHD1):c.396G>A (p.Lys132=)
|
|
|
NM_001384474.1(LOXHD1):c.3972C>T (p.Ala1324=)
|
|
|
NM_001384474.1(LOXHD1):c.3975C>T (p.Asn1325=)
|
|
|
NM_001384474.1(LOXHD1):c.3981C>T (p.Phe1327=)
|
rs2036402973
|
|
NM_001384474.1(LOXHD1):c.3996C>T (p.Gly1332=)
|
rs2144322659
|
|
NM_001384474.1(LOXHD1):c.399G>A (p.Arg133=)
|
rs2144376458
|
|
NM_001384474.1(LOXHD1):c.4005del (p.Val1336fs)
|
rs35449699
|
|
NM_001384474.1(LOXHD1):c.4006G>A (p.Val1336Met)
|
|
|
NM_001384474.1(LOXHD1):c.4006G>T (p.Val1336Leu)
|
rs149068207
|
|
NM_001384474.1(LOXHD1):c.4011C>T (p.Cys1337=)
|
|
|
NM_001384474.1(LOXHD1):c.4014C>A (p.Thr1338=)
|
|
|
NM_001384474.1(LOXHD1):c.4035C>T (p.Thr1345=)
|
|
|
NM_001384474.1(LOXHD1):c.4044G>A (p.Arg1348=)
|
|
|
NM_001384474.1(LOXHD1):c.4048C>T (p.Gln1350Ter)
|
|
|
NM_001384474.1(LOXHD1):c.4053G>A (p.Lys1351=)
|
|
|
NM_001384474.1(LOXHD1):c.4056G>A (p.Gln1352=)
|
|
|
NM_001384474.1(LOXHD1):c.4080C>A (p.Ser1360=)
|
|
|
NM_001384474.1(LOXHD1):c.4080C>T (p.Ser1360=)
|
|
|
NM_001384474.1(LOXHD1):c.4082G>T (p.Arg1361Leu)
|
|
|
NM_001384474.1(LOXHD1):c.4095+11T>C
|
|
|
NM_001384474.1(LOXHD1):c.4095+15C>A
|
|
|
NM_001384474.1(LOXHD1):c.4095+15C>T
|
|
|
NM_001384474.1(LOXHD1):c.4095+18G>A
|
|
|
NM_001384474.1(LOXHD1):c.4095+18G>C
|
|
|
NM_001384474.1(LOXHD1):c.4095+1G>A
|
rs1280052681
|
|
NM_001384474.1(LOXHD1):c.4095+20T>C
|
|
|
NM_001384474.1(LOXHD1):c.4095+7G>A
|
rs2144321136
|
|
NM_001384474.1(LOXHD1):c.4096-166G>A
|
rs9967253
|
|
NM_001384474.1(LOXHD1):c.4096-19C>T
|
|
|
NM_001384474.1(LOXHD1):c.4096-7del
|
rs1314985669
|
|
NM_001384474.1(LOXHD1):c.4099G>T (p.Glu1367Ter)
|
rs373937326
|
|
NM_001384474.1(LOXHD1):c.4107G>T (p.Val1369=)
|
|
|
NM_001384474.1(LOXHD1):c.4116C>A (p.Ile1372=)
|
|
|
NM_001384474.1(LOXHD1):c.4126dup (p.Ile1376fs)
|
rs2144280231
|
|
NM_001384474.1(LOXHD1):c.4129C>T (p.Arg1377Trp)
|
|
|
NM_001384474.1(LOXHD1):c.4131G>T (p.Arg1377=)
|
rs2144280015
|
|
NM_001384474.1(LOXHD1):c.4137C>T (p.Gly1379=)
|
rs1437990899
|
|
NM_001384474.1(LOXHD1):c.4148C>G (p.Thr1383Arg)
|
rs7244681
|
|
NM_001384474.1(LOXHD1):c.4148C>T (p.Thr1383Met)
|
rs7244681
|
|
NM_001384474.1(LOXHD1):c.4149G>T (p.Thr1383=)
|
|
|
NM_001384474.1(LOXHD1):c.4195C>A (p.Leu1399Ile)
|
|
|
NM_001384474.1(LOXHD1):c.4203G>T (p.Pro1401=)
|
|
|
NM_001384474.1(LOXHD1):c.420C>T (p.Phe140=)
|
|
|
NM_001384474.1(LOXHD1):c.4212+10T>C
|
|
|
NM_001384474.1(LOXHD1):c.4212+12A>G
|
|
|
NM_001384474.1(LOXHD1):c.4212+16G>A
|
|
|
NM_001384474.1(LOXHD1):c.4212+8G>A
|
|
|
NM_001384474.1(LOXHD1):c.4213-11C>T
|
|
|
NM_001384474.1(LOXHD1):c.4213-15T>C
|
|
|
NM_001384474.1(LOXHD1):c.4213-1G>A
|
|
|
NM_001384474.1(LOXHD1):c.4213-2A>G
|
rs1317094682
|
|
NM_001384474.1(LOXHD1):c.4213-9T>C
|
|
|
NM_001384474.1(LOXHD1):c.4222_4223insGCTTCACCGGCGCAGTCATTCTCATAATCGCCCACGGA (p.Thr1408fs)
|
rs2144267356
|
|
NM_001384474.1(LOXHD1):c.4224C>T (p.Thr1408=)
|
rs2144267275
|
|
NM_001384474.1(LOXHD1):c.4239C>A (p.Cys1413Ter)
|
|
|
NM_001384474.1(LOXHD1):c.423_427del (p.Asn141fs)
|
rs1423265088
|
|
NM_001384474.1(LOXHD1):c.4251T>C (p.Leu1417=)
|
rs2036156768
|
|
NM_001384474.1(LOXHD1):c.4251T>G (p.Leu1417=)
|
|
|
NM_001384474.1(LOXHD1):c.4257C>A (p.Thr1419=)
|
|
|
NM_001384474.1(LOXHD1):c.4260T>C (p.Ser1420=)
|
rs2144266648
|
|
NM_001384474.1(LOXHD1):c.4266T>C (p.Asp1422=)
|
|
|
NM_001384474.1(LOXHD1):c.4275G>A (p.Lys1425=)
|
rs2144266552
|
|
NM_001384474.1(LOXHD1):c.4278C>T (p.Thr1426=)
|
rs2144266493
|
|
NM_001384474.1(LOXHD1):c.4284A>T (p.Arg1428=)
|
rs2144266304
|
|
NM_001384474.1(LOXHD1):c.4287A>G (p.Glu1429=)
|
|
|
NM_001384474.1(LOXHD1):c.4302C>T (p.Asp1434=)
|
rs2144266064
|
|
NM_001384474.1(LOXHD1):c.4311T>C (p.Thr1437=)
|
|
|
NM_001384474.1(LOXHD1):c.4329T>C (p.Asp1443=)
|
|
|
NM_001384474.1(LOXHD1):c.4345del (p.Val1449fs)
|
|
|
NM_001384474.1(LOXHD1):c.4353G>A (p.Lys1451=)
|
|
|
NM_001384474.1(LOXHD1):c.4363G>A (p.Glu1455Lys)
|
rs2144265336
|
|
NM_001384474.1(LOXHD1):c.4375+13T>G
|
|
|
NM_001384474.1(LOXHD1):c.4375+17C>T
|
|
|
NM_001384474.1(LOXHD1):c.4375+19C>G
|
|
|
NM_001384474.1(LOXHD1):c.4375+1G>T
|
rs2036150181
|
|
NM_001384474.1(LOXHD1):c.4375+3_4375+6del
|
rs2144265138
|
|
NM_001384474.1(LOXHD1):c.4376-10A>C
|
|
|
NM_001384474.1(LOXHD1):c.4376-12C>T
|
|
|
NM_001384474.1(LOXHD1):c.4376-15C>A
|
|
|
NM_001384474.1(LOXHD1):c.4376-1G>A
|
|
|
NM_001384474.1(LOXHD1):c.4376-20C>T
|
|
|
NM_001384474.1(LOXHD1):c.4376-31TGTC[3]
|
|
|
NM_001384474.1(LOXHD1):c.4376-5C>T
|
rs2144222115
|
|
NM_001384474.1(LOXHD1):c.4376-6G>T
|
|
|
NM_001384474.1(LOXHD1):c.4383G>A (p.Leu1461=)
|
rs2144221973
|
|
NM_001384474.1(LOXHD1):c.4386C>G (p.Tyr1462Ter)
|
rs2144221933
|
|
NM_001384474.1(LOXHD1):c.4386C>T (p.Tyr1462=)
|
|
|
NM_001384474.1(LOXHD1):c.4389G>T (p.Ser1463=)
|
|
|
NM_001384474.1(LOXHD1):c.4392G>A (p.Val1464=)
|
|
|
NM_001384474.1(LOXHD1):c.4393C>T (p.Gln1465Ter)
|
|
|
NM_001384474.1(LOXHD1):c.4398C>A (p.Ile1466=)
|
rs2144221730
|
|
NM_001384474.1(LOXHD1):c.4404A>G (p.Thr1468=)
|
|
|
NM_001384474.1(LOXHD1):c.4407G>A (p.Gly1469=)
|
rs1171297100
|
|
NM_001384474.1(LOXHD1):c.4413del (p.Pro1472fs)
|
rs1407136283
|
|
NM_001384474.1(LOXHD1):c.4425G>A (p.Gly1475=)
|
rs1406436518
|
|
NM_001384474.1(LOXHD1):c.4426del (p.Thr1476fs)
|
|
|
NM_001384474.1(LOXHD1):c.4437G>A (p.Lys1479=)
|
|
|
NM_001384474.1(LOXHD1):c.4443C>T (p.Tyr1481=)
|
|
|
NM_001384474.1(LOXHD1):c.4449C>T (p.Thr1483=)
|
|
|
NM_001384474.1(LOXHD1):c.4452C>A (p.Ile1484=)
|
|
|
NM_001384474.1(LOXHD1):c.4455T>C (p.Tyr1485=)
|
|
|
NM_001384474.1(LOXHD1):c.4465G>A (p.Gly1489Arg)
|
|
|
NM_001384474.1(LOXHD1):c.4476G>A (p.Gly1492=)
|
rs2035956588
|
|
NM_001384474.1(LOXHD1):c.4477G>C (p.Glu1493Gln)
|
|
|
NM_001384474.1(LOXHD1):c.4477G>T (p.Glu1493Ter)
|
rs1166673793
|
|
NM_001384474.1(LOXHD1):c.4477dup (p.Glu1493fs)
|
|
|
NM_001384474.1(LOXHD1):c.447G>A (p.Val149=)
|
rs2038938688
|
|
NM_001384474.1(LOXHD1):c.4480C>A (p.Arg1494=)
|
rs201587138
|
|
NM_001384474.1(LOXHD1):c.4480_4481dup (p.Tyr1495fs)
|
rs2144220255
|
|
NM_001384474.1(LOXHD1):c.4486C>T (p.Leu1496Phe)
|
|
|
NM_001384474.1(LOXHD1):c.4500G>A (p.Glu1500=)
|
|
|
NM_001384474.1(LOXHD1):c.4515G>A (p.Lys1505=)
|
rs2144219749
|
|
NM_001384474.1(LOXHD1):c.4519G>C (p.Glu1507Gln)
|
|
|
NM_001384474.1(LOXHD1):c.4529del (p.Thr1510fs)
|
rs2144219491
|
|
NM_001384474.1(LOXHD1):c.4530+10G>A
|
rs1366118373
|
|
NM_001384474.1(LOXHD1):c.4530+12A>T
|
|
|
NM_001384474.1(LOXHD1):c.4530+15C>T
|
|
|
NM_001384474.1(LOXHD1):c.4530+16G>A
|
|
|
NM_001384474.1(LOXHD1):c.4530+19G>A
|
|
|
NM_001384474.1(LOXHD1):c.4530+52G>T
|
rs78378260
|
|
NM_001384474.1(LOXHD1):c.4530+9G>A
|
|
|
NM_001384474.1(LOXHD1):c.4531-120G>A
|
rs11660036
|
|
NM_001384474.1(LOXHD1):c.4531-12T>C
|
|
|
NM_001384474.1(LOXHD1):c.4531-15A>G
|
|
|
NM_001384474.1(LOXHD1):c.4531-16C>T
|
|
|
NM_001384474.1(LOXHD1):c.4531-2A>T
|
rs951333133
|
|
NM_001384474.1(LOXHD1):c.4531-4C>G
|
|
|
NM_001384474.1(LOXHD1):c.4531-5C>T
|
|
|
NM_001384474.1(LOXHD1):c.4531-9del
|
|
|
NM_001384474.1(LOXHD1):c.4539C>T (p.Thr1513=)
|
rs1316501431
|
|
NM_001384474.1(LOXHD1):c.4555G>A (p.Ala1519Thr)
|
|
|
NM_001384474.1(LOXHD1):c.4557T>A (p.Ala1519=)
|
|
|
NM_001384474.1(LOXHD1):c.4557T>G (p.Ala1519=)
|
rs2144171012
|
|
NM_001384474.1(LOXHD1):c.4566C>A (p.Gly1522=)
|
rs747795390
|
|
NM_001384474.1(LOXHD1):c.4567G>A (p.Val1523Ile)
|
|
|
NM_001384474.1(LOXHD1):c.456C>T (p.Asp152=)
|
|
|
NM_001384474.1(LOXHD1):c.4581C>T (p.Ile1527=)
|
rs2035754658
|
|
NM_001384474.1(LOXHD1):c.4590C>T (p.Arg1530=)
|
|
|
NM_001384474.1(LOXHD1):c.4593T>C (p.His1531=)
|
|
|
NM_001384474.1(LOXHD1):c.4596C>T (p.Asp1532=)
|
rs2144170262
|
|
NM_001384474.1(LOXHD1):c.4602C>T (p.Ser1534=)
|
|
|
NM_001384474.1(LOXHD1):c.4605G>A (p.Lys1535=)
|
|
|
NM_001384474.1(LOXHD1):c.4607G>A (p.Trp1536Ter)
|
|
|
NM_001384474.1(LOXHD1):c.460del (p.Gln154fs)
|
|
|
NM_001384474.1(LOXHD1):c.4611C>A (p.Cys1537Ter)
|
|
|
NM_001384474.1(LOXHD1):c.4612G>A (p.Ala1538Thr)
|
|
|
NM_001384474.1(LOXHD1):c.4623C>T (p.Tyr1541=)
|
rs981356695
|
|
NM_001384474.1(LOXHD1):c.4627del (p.Glu1543fs)
|
rs2144169642
|
|
NM_001384474.1(LOXHD1):c.4629G>A (p.Glu1543=)
|
|
|
NM_001384474.1(LOXHD1):c.4637A>C (p.Glu1546Ala)
|
|
|
NM_001384474.1(LOXHD1):c.4638G>A (p.Glu1546=)
|
|
|
NM_001384474.1(LOXHD1):c.4655A>G (p.Asn1552Ser)
|
|
|
NM_001384474.1(LOXHD1):c.465G>A (p.Trp155Ter)
|
|
|
NM_001384474.1(LOXHD1):c.4663G>T (p.Glu1555Ter)
|
rs1164686618
|
|
NM_001384474.1(LOXHD1):c.4665G>A (p.Glu1555=)
|
rs1598915626
|
|
NM_001384474.1(LOXHD1):c.4677A>G (p.Leu1559=)
|
|
|
NM_001384474.1(LOXHD1):c.4681G>A (p.Gly1561Arg)
|
|
|
NM_001384474.1(LOXHD1):c.4683dup (p.Arg1562fs)
|
rs1409994676
|
|
NM_001384474.1(LOXHD1):c.4692C>G (p.Leu1564=)
|
rs1282100188
|
|
NM_001384474.1(LOXHD1):c.4698G>A (p.Leu1566=)
|
|
|
NM_001384474.1(LOXHD1):c.469dup (p.Arg157fs)
|
rs1290471450
|
|
NM_001384474.1(LOXHD1):c.46C>T (p.Leu16=)
|
rs1599083631
|
|
NM_001384474.1(LOXHD1):c.4704G>A (p.Lys1568=)
|
|
|
NM_001384474.1(LOXHD1):c.4708G>A (p.Asp1570Asn)
|
|
|
NM_001384474.1(LOXHD1):c.4714C>T (p.Arg1572Ter)
|
rs75949023
|
|
NM_001384474.1(LOXHD1):c.4719C>A (p.Leu1573=)
|
rs1407446545
|
|
NM_001384474.1(LOXHD1):c.4721del (p.Glu1574fs)
|
|
|
NM_001384474.1(LOXHD1):c.4740+13G>A
|
|
|
NM_001384474.1(LOXHD1):c.4740+17A>G
|
|
|
NM_001384474.1(LOXHD1):c.4740+1G>A
|
rs2144167172
|
|
NM_001384474.1(LOXHD1):c.4740+7C>T
|
|
|
NM_001384474.1(LOXHD1):c.4741-11C>T
|
|
|
NM_001384474.1(LOXHD1):c.4741-13C>T
|
|
|
NM_001384474.1(LOXHD1):c.4741-14G>C
|
|
|
NM_001384474.1(LOXHD1):c.4741-19G>T
|
|
|
NM_001384474.1(LOXHD1):c.4741-4A>G
|
rs2144165581
|
|
NM_001384474.1(LOXHD1):c.4760G>C (p.Ser1587Thr)
|
rs1318916998
|
|
NM_001384474.1(LOXHD1):c.4767C>T (p.Asn1589=)
|
rs941555102
|
|
NM_001384474.1(LOXHD1):c.4777C>G (p.Pro1593Ala)
|
|
|
NM_001384474.1(LOXHD1):c.4782T>C (p.Ala1594=)
|
|
|
NM_001384474.1(LOXHD1):c.4799C>A (p.Ala1600Asp)
|
|
|
NM_001384474.1(LOXHD1):c.4800C>G (p.Ala1600=)
|
|
|
NM_001384474.1(LOXHD1):c.4803G>A (p.Leu1601=)
|
|
|
NM_001384474.1(LOXHD1):c.4809C>T (p.Ser1603=)
|
rs2144164017
|
|
NM_001384474.1(LOXHD1):c.4812G>A (p.Lys1604=)
|
|
|
NM_001384474.1(LOXHD1):c.4813A>T (p.Met1605Leu)
|
|
|
NM_001384474.1(LOXHD1):c.4821T>C (p.Asp1607=)
|
|
|
NM_001384474.1(LOXHD1):c.4824C>T (p.Val1608=)
|
rs114557260
|
|
NM_001384474.1(LOXHD1):c.4842C>G (p.Thr1614=)
|
|
|
NM_001384474.1(LOXHD1):c.4848C>T (p.Pro1616=)
|
|
|
NM_001384474.1(LOXHD1):c.4861G>A (p.Val1621Ile)
|
|
|
NM_001384474.1(LOXHD1):c.486C>A (p.Ser162Arg)
|
|
|
NM_001384474.1(LOXHD1):c.4871G>C (p.Gly1624Ala)
|
|
|
NM_001384474.1(LOXHD1):c.4876+12A>G
|
|
|
NM_001384474.1(LOXHD1):c.4876+15G>A
|
|
|
NM_001384474.1(LOXHD1):c.4876+9A>G
|
|
|
NM_001384474.1(LOXHD1):c.4877-14G>A
|
|
|
NM_001384474.1(LOXHD1):c.4877-14G>T
|
|
|
NM_001384474.1(LOXHD1):c.4877-16C>G
|
|
|
NM_001384474.1(LOXHD1):c.4877-18C>A
|
|
|
NM_001384474.1(LOXHD1):c.4877-18C>T
|
|
|
NM_001384474.1(LOXHD1):c.4877-2A>G
|
|
|
NM_001384474.1(LOXHD1):c.4877-7C>G
|
|
|
NM_001384474.1(LOXHD1):c.4887C>A (p.Tyr1629Ter)
|
rs2144138527
|
|
NM_001384474.1(LOXHD1):c.488del (p.Phe163fs)
|
|
|
NM_001384474.1(LOXHD1):c.4890T>C (p.Tyr1630=)
|
rs1243055355
|
|
NM_001384474.1(LOXHD1):c.4896A>G (p.Ser1632=)
|
|
|
NM_001384474.1(LOXHD1):c.489C>T (p.Phe163=)
|
|
|
NM_001384474.1(LOXHD1):c.4921del (p.Ala1641fs)
|
rs1598909510
|
|
NM_001384474.1(LOXHD1):c.4923G>A (p.Ala1641=)
|
rs761707142
|
|
NM_001384474.1(LOXHD1):c.4923G>T (p.Ala1641=)
|
rs761707142
|
|
NM_001384474.1(LOXHD1):c.4929T>G (p.Thr1643=)
|
|
|
NM_001384474.1(LOXHD1):c.492C>T (p.Asn164=)
|
|
|
NM_001384474.1(LOXHD1):c.4932C>T (p.Asp1644=)
|
rs1391343907
|
|
NM_001384474.1(LOXHD1):c.4934_4935delinsAA (p.Ser1645Lys)
|
rs1568133169
|
|
NM_001384474.1(LOXHD1):c.4957G>A (p.Gly1653Arg)
|
rs374897301
|
|
NM_001384474.1(LOXHD1):c.495C>T (p.Pro165=)
|
|
|
NM_001384474.1(LOXHD1):c.4960del (p.Glu1654fs)
|
|
|
NM_001384474.1(LOXHD1):c.4962G>A (p.Glu1654=)
|
rs1434313029
|
|
NM_001384474.1(LOXHD1):c.4974T>C (p.Arg1658=)
|
rs1598909151
|
|
NM_001384474.1(LOXHD1):c.4990T>C (p.Leu1664=)
|
rs1261756087
|
|
NM_001384474.1(LOXHD1):c.4998C>T (p.Tyr1666=)
|
|
|
NM_001384474.1(LOXHD1):c.5001C>A (p.Pro1667=)
|
|
|
NM_001384474.1(LOXHD1):c.5001C>G (p.Pro1667=)
|
|
|
NM_001384474.1(LOXHD1):c.5002C>A (p.Arg1668=)
|
|
|
NM_001384474.1(LOXHD1):c.5004A>C (p.Arg1668=)
|
|
|
NM_001384474.1(LOXHD1):c.5023del (p.Arg1675fs)
|
rs770258999
|
|
NM_001384474.1(LOXHD1):c.5024G>A (p.Arg1675His)
|
|
|
NM_001384474.1(LOXHD1):c.502A>G (p.Met168Val)
|
|
|
NM_001384474.1(LOXHD1):c.5043C>T (p.Phe1681=)
|
|
|
NM_001384474.1(LOXHD1):c.5049_5050insT (p.Ala1684fs)
|
|
|
NM_001384474.1(LOXHD1):c.5066del (p.Gly1689fs)
|
|
|
NM_001384474.1(LOXHD1):c.5070C>A (p.Ile1690=)
|
rs1265155697
|
|
NM_001384474.1(LOXHD1):c.5070C>T (p.Ile1690=)
|
|
|
NM_001384474.1(LOXHD1):c.5076G>A (p.Lys1692=)
|
|
|
NM_001384474.1(LOXHD1):c.507C>T (p.Pro169=)
|
|
|
NM_001384474.1(LOXHD1):c.5085+11C>T
|
|
|
NM_001384474.1(LOXHD1):c.5085+14G>A
|
|
|
NM_001384474.1(LOXHD1):c.5085+14G>C
|
|
|
NM_001384474.1(LOXHD1):c.5085+16G>A
|
|
|
NM_001384474.1(LOXHD1):c.5085+17G>A
|
|
|
NM_001384474.1(LOXHD1):c.5085+17G>T
|
|
|
NM_001384474.1(LOXHD1):c.5085+18C>T
|
|
|
NM_001384474.1(LOXHD1):c.5085+19C>T
|
|
|
NM_001384474.1(LOXHD1):c.5085+20C>A
|
|
|
NM_001384474.1(LOXHD1):c.5085+2T>G
|
|
|
NM_001384474.1(LOXHD1):c.5085+7G>T
|
rs2035604275
|
|
NM_001384474.1(LOXHD1):c.511+18C>T
|
|
|
NM_001384474.1(LOXHD1):c.511+20T>G
|
|
|
NM_001384474.1(LOXHD1):c.511+8C>T
|
|
|
NM_001384474.1(LOXHD1):c.5113_5125dup (p.Val1709fs)
|
rs876657855
|
|
NM_001384474.1(LOXHD1):c.5117G>A (p.Cys1706Tyr)
|
|
|
NM_001384474.1(LOXHD1):c.512-10T>A
|
|
|
NM_001384474.1(LOXHD1):c.512-11C>T
|
|
|
NM_001384474.1(LOXHD1):c.512-12C>T
|
|
|
NM_001384474.1(LOXHD1):c.512-16C>G
|
|
|
NM_001384474.1(LOXHD1):c.512-18C>G
|
|
|
NM_001384474.1(LOXHD1):c.512-19T>C
|
|
|
NM_001384474.1(LOXHD1):c.512-2A>C
|
rs1201905882
|
|
NM_001384474.1(LOXHD1):c.512-2A>T
|
|
|
NM_001384474.1(LOXHD1):c.512-9T>G
|
|
|
NM_001384474.1(LOXHD1):c.5122C>G (p.Leu1708Val)
|
|
|
NM_001384474.1(LOXHD1):c.5125G>A (p.Val1709Met)
|
|
|
NM_001384474.1(LOXHD1):c.5272-11T>A
|
|
|
NM_001384474.1(LOXHD1):c.5272-12C>T
|
|
|
NM_001384474.1(LOXHD1):c.5272-1G>A
|
|
|
NM_001384474.1(LOXHD1):c.5272-20C>T
|
|
|
NM_001384474.1(LOXHD1):c.5272-4G>A
|
rs2035373079
|
|
NM_001384474.1(LOXHD1):c.5272-7A>T
|
|
|
NM_001384474.1(LOXHD1):c.5277C>T (p.Leu1759=)
|
rs2144086855
|
|
NM_001384474.1(LOXHD1):c.5277del (p.Tyr1760fs)
|
|
|
NM_001384474.1(LOXHD1):c.5283A>G (p.Glu1761=)
|
rs1204398844
|
|
NM_001384474.1(LOXHD1):c.5288C>T (p.Thr1763Met)
|
|
|
NM_001384474.1(LOXHD1):c.5289G>T (p.Thr1763=)
|
|
|
NM_001384474.1(LOXHD1):c.5294G>A (p.Trp1765Ter)
|
rs1053524259
|
|
NM_001384474.1(LOXHD1):c.5295_5296insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAAATGACGGTGTGG (p.Thr1766delinsAlaGlyArgGlyGlySerArgLeuTer)
|
|
|
NM_001384474.1(LOXHD1):c.5310T>A (p.Val1770=)
|
|
|
NM_001384474.1(LOXHD1):c.5316G>A (p.Gly1772=)
|
|
|
NM_001384474.1(LOXHD1):c.531G>A (p.Lys177=)
|
rs764617816
|
|
NM_001384474.1(LOXHD1):c.5330del (p.Asn1777fs)
|
rs776345911
|
|
NM_001384474.1(LOXHD1):c.5346_5347del (p.Tyr1783fs)
|
|
|
NM_001384474.1(LOXHD1):c.534A>T (p.Val178=)
|
rs2144328373
|
|
NM_001384474.1(LOXHD1):c.5352C>G (p.Gly1784=)
|
rs2144084701
|
|
NM_001384474.1(LOXHD1):c.5352C>T (p.Gly1784=)
|
|
|
NM_001384474.1(LOXHD1):c.537C>T (p.Tyr179=)
|
rs2144328364
|
|
NM_001384474.1(LOXHD1):c.5382G>C (p.Leu1794=)
|
rs2144084053
|
|
NM_001384474.1(LOXHD1):c.5391_5392del (p.Lys1798fs)
|
|
|
NM_001384474.1(LOXHD1):c.5393_5394del (p.Lys1798fs)
|
rs2144083830
|
|
NM_001384474.1(LOXHD1):c.5397C>T (p.Ala1799=)
|
|
|
NM_001384474.1(LOXHD1):c.5399+12C>T
|
|
|
NM_001384474.1(LOXHD1):c.5399+15C>G
|
|
|
NM_001384474.1(LOXHD1):c.5399+15C>T
|
|
|
NM_001384474.1(LOXHD1):c.5399+17C>T
|
|
|
NM_001384474.1(LOXHD1):c.5399+19T>C
|
|
|
NM_001384474.1(LOXHD1):c.5399+19T>G
|
|
|
NM_001384474.1(LOXHD1):c.5399+8G>A
|
rs2144083633
|
|
NM_001384474.1(LOXHD1):c.5400-14C>G
|
|
|
NM_001384474.1(LOXHD1):c.5400-15C>T
|
|
|
NM_001384474.1(LOXHD1):c.5400-20C>G
|
|
|
NM_001384474.1(LOXHD1):c.5400-2A>C
|
|
|
NM_001384474.1(LOXHD1):c.5400-4C>T
|
rs2143958852
|
|
NM_001384474.1(LOXHD1):c.5400-6C>T
|
rs1598880224
|
|
NM_001384474.1(LOXHD1):c.5400-7C>T
|
rs376131738
|
|
NM_001384474.1(LOXHD1):c.5400-8A>T
|
|
|
NM_001384474.1(LOXHD1):c.5407C>A (p.Arg1803=)
|
rs377421822
|
|
NM_001384474.1(LOXHD1):c.540T>C (p.Thr180=)
|
|
|
NM_001384474.1(LOXHD1):c.5421C>T (p.Asp1807=)
|
rs2143957748
|
|
NM_001384474.1(LOXHD1):c.5437dup (p.Ile1813fs)
|
rs2143957245
|
|
NM_001384474.1(LOXHD1):c.5442A>C (p.Leu1814=)
|
rs2143957134
|
|
NM_001384474.1(LOXHD1):c.5442A>G (p.Leu1814=)
|
|
|
NM_001384474.1(LOXHD1):c.5467C>A (p.Arg1823=)
|
rs759919888
|
|
NM_001384474.1(LOXHD1):c.5472C>T (p.Ile1824=)
|
rs2143956197
|
|
NM_001384474.1(LOXHD1):c.5478T>C (p.Ile1826=)
|
rs2143955985
|
|
NM_001384474.1(LOXHD1):c.5490C>T (p.Gly1830=)
|
rs1598879750
|
|
NM_001384474.1(LOXHD1):c.5498_5499del (p.Pro1833fs)
|
|
|
NM_001384474.1(LOXHD1):c.5499G>A (p.Pro1833=)
|
rs753071566
|
|
NM_001384474.1(LOXHD1):c.5500G>T (p.Glu1834Ter)
|
|
|
NM_001384474.1(LOXHD1):c.5517+14A>C
|
|
|
NM_001384474.1(LOXHD1):c.5517+226A>C
|
rs12968350
|
|
NM_001384474.1(LOXHD1):c.5517+8G>A
|
|
|
NM_001384474.1(LOXHD1):c.5518-11C>A
|
|
|
NM_001384474.1(LOXHD1):c.5518-11C>T
|
|
|
NM_001384474.1(LOXHD1):c.5518-120C>G
|
rs11659968
|
|
NM_001384474.1(LOXHD1):c.5518-13C>G
|
|
|
NM_001384474.1(LOXHD1):c.5518-15C>T
|
|
|
NM_001384474.1(LOXHD1):c.5518-16G>A
|
|
|
NM_001384474.1(LOXHD1):c.5518-1G>A
|
rs2143921132
|
|
NM_001384474.1(LOXHD1):c.5518-1G>T
|
rs2143921132
|
|
NM_001384474.1(LOXHD1):c.5518-20G>A
|
|
|
NM_001384474.1(LOXHD1):c.5518-20G>C
|
|
|
NM_001384474.1(LOXHD1):c.5518-20G>T
|
|
|
NM_001384474.1(LOXHD1):c.5518-6C>T
|
|
|
NM_001384474.1(LOXHD1):c.5518-9C>G
|
|
|
NM_001384474.1(LOXHD1):c.5518-9C>T
|
|
|
NM_001384474.1(LOXHD1):c.5520C>A (p.Ile1840=)
|
|
|
NM_001384474.1(LOXHD1):c.5526G>A (p.Leu1842=)
|
|
|
NM_001384474.1(LOXHD1):c.5529G>A (p.Lys1843=)
|
rs1435950189
|
|
NM_001384474.1(LOXHD1):c.5538C>T (p.Asn1846=)
|
rs2143920602
|
|
NM_001384474.1(LOXHD1):c.5546_5547delinsCT (p.Asp1849Ala)
|
rs2143920429
|
|
NM_001384474.1(LOXHD1):c.5547C>T (p.Asp1849=)
|
|
|
NM_001384474.1(LOXHD1):c.5550G>A (p.Leu1850=)
|
|
|
NM_001384474.1(LOXHD1):c.5550G>C (p.Leu1850=)
|
rs898860417
|
|
NM_001384474.1(LOXHD1):c.5550G>T (p.Leu1850=)
|
rs898860417
|
|
NM_001384474.1(LOXHD1):c.5553C>A (p.Thr1851=)
|
|
|
NM_001384474.1(LOXHD1):c.5553C>T (p.Thr1851=)
|
|
|
NM_001384474.1(LOXHD1):c.5559C>T (p.Phe1853=)
|
rs2034664618
|
|
NM_001384474.1(LOXHD1):c.5562C>A (p.Tyr1854Ter)
|
|
|
NM_001384474.1(LOXHD1):c.5562C>T (p.Tyr1854=)
|
|
|
NM_001384474.1(LOXHD1):c.5565T>C (p.Tyr1855=)
|
|
|
NM_001384474.1(LOXHD1):c.5568A>C (p.Gly1856=)
|
rs2143919429
|
|
NM_001384474.1(LOXHD1):c.5574G>A (p.Trp1858Ter)
|
|
|
NM_001384474.1(LOXHD1):c.5574_5577del (p.Trp1858fs)
|
rs2143919227
|
|
NM_001384474.1(LOXHD1):c.5584C>A (p.Arg1862=)
|
rs201994383
|
|
NM_001384474.1(LOXHD1):c.5589G>A (p.Lys1863=)
|
|
|
NM_001384474.1(LOXHD1):c.558A>G (p.Ala186=)
|
rs1599053450
|
|
NM_001384474.1(LOXHD1):c.5598G>A (p.Lys1866=)
|
|
|
NM_001384474.1(LOXHD1):c.5600C>A (p.Thr1867Asn)
|
|
|
NM_001384474.1(LOXHD1):c.5613_5614del (p.Glu1871fs)
|
rs2143918072
|
|
NM_001384474.1(LOXHD1):c.561G>A (p.Gly187=)
|
rs2144328278
|
|
NM_001384474.1(LOXHD1):c.5625T>G (p.Val1875=)
|
|
|
NM_001384474.1(LOXHD1):c.5665G>A (p.Val1889Ile)
|
|
|
NM_001384474.1(LOXHD1):c.5674A>T (p.Lys1892Ter)
|
rs2143916424
|
|
NM_001384474.1(LOXHD1):c.567T>C (p.Asp189=)
|
rs2144328249
|
|
NM_001384474.1(LOXHD1):c.5688C>A (p.Ile1896=)
|
rs2034651303
|
|
NM_001384474.1(LOXHD1):c.5692+10G>A
|
|
|
NM_001384474.1(LOXHD1):c.5692+12G>T
|
|
|
NM_001384474.1(LOXHD1):c.5692+15C>T
|
|
|
NM_001384474.1(LOXHD1):c.5692+18C>T
|
|
|
NM_001384474.1(LOXHD1):c.5692+1G>A
|
|
|
NM_001384474.1(LOXHD1):c.5693-10C>T
|
|
|
NM_001384474.1(LOXHD1):c.5693-11G>A
|
|
|
NM_001384474.1(LOXHD1):c.5693-13G>C
|
|
|
NM_001384474.1(LOXHD1):c.5693-18A>T
|
|
|
NM_001384474.1(LOXHD1):c.5693-1G>T
|
|
|
NM_001384474.1(LOXHD1):c.5693-2A>C
|
|
|
NM_001384474.1(LOXHD1):c.5693-3dup
|
|
|
NM_001384474.1(LOXHD1):c.5693-4C>T
|
|
|
NM_001384474.1(LOXHD1):c.5693-5C>T
|
rs573563419
|
|
NM_001384474.1(LOXHD1):c.5693-7C>A
|
|
|
NM_001384474.1(LOXHD1):c.5693-7C>T
|
rs1598869537
|
|
NM_001384474.1(LOXHD1):c.5693-8C>T
|
rs544020946
|
|
NM_001384474.1(LOXHD1):c.5693-9A>T
|
|
|
NM_001384474.1(LOXHD1):c.5703T>C (p.Thr1901=)
|
rs1430003685
|
|
NM_001384474.1(LOXHD1):c.5712C>T (p.Asn1904=)
|
rs746023380
|
|
NM_001384474.1(LOXHD1):c.5721C>G (p.Ile1907Met)
|
|
|
NM_001384474.1(LOXHD1):c.5721C>T (p.Ile1907=)
|
|
|
NM_001384474.1(LOXHD1):c.5724C>T (p.Ile1908=)
|
|
|
NM_001384474.1(LOXHD1):c.5733G>A (p.Gly1911=)
|
rs2143889265
|
|
NM_001384474.1(LOXHD1):c.573T>C (p.Asp191=)
|
rs950887925
|
|
NM_001384474.1(LOXHD1):c.5742G>A (p.Gly1914=)
|
|
|
NM_001384474.1(LOXHD1):c.5745T>C (p.Asp1915=)
|
rs2143888455
|
|
NM_001384474.1(LOXHD1):c.5748T>C (p.Ser1916=)
|
rs1040711245
|
|
NM_001384474.1(LOXHD1):c.5751G>A (p.Gly1917=)
|
|
|
NM_001384474.1(LOXHD1):c.5751del (p.Thr1918fs)
|
|
|
NM_001384474.1(LOXHD1):c.5755C>T (p.Leu1919=)
|
rs2143888107
|
|
NM_001384474.1(LOXHD1):c.5761C>T (p.Leu1921=)
|
|
|
NM_001384474.1(LOXHD1):c.5764A>T (p.Lys1922Ter)
|
rs2143887823
|
|
NM_001384474.1(LOXHD1):c.5766G>A (p.Lys1922=)
|
|
|
NM_001384474.1(LOXHD1):c.5767C>T (p.Gln1923Ter)
|
rs377368588
|
|
NM_001384474.1(LOXHD1):c.5769G>A (p.Gln1923=)
|
rs2034539677
|
|
NM_001384474.1(LOXHD1):c.5769_5775del (p.Ser1924fs)
|
|
|
NM_001384474.1(LOXHD1):c.5775A>C (p.Ala1925=)
|
rs936256548
|
|
NM_001384474.1(LOXHD1):c.5781G>A (p.Trp1927Ter)
|
|
|
NM_001384474.1(LOXHD1):c.5794C>A (p.Arg1932=)
|
|
|
NM_001384474.1(LOXHD1):c.5794C>T (p.Arg1932Trp)
|
|
|
NM_001384474.1(LOXHD1):c.5795G>A (p.Arg1932Gln)
|
|
|
NM_001384474.1(LOXHD1):c.5796G>A (p.Arg1932=)
|
|
|
NM_001384474.1(LOXHD1):c.579C>T (p.Phe193=)
|
|
|
NM_001384474.1(LOXHD1):c.57C>A (p.Tyr19Ter)
|
|
|
NM_001384474.1(LOXHD1):c.57C>G (p.Tyr19Ter)
|
|
|
NM_001384474.1(LOXHD1):c.57C>T (p.Tyr19=)
|
|
|
NM_001384474.1(LOXHD1):c.5805G>T (p.Thr1935=)
|
rs1204559888
|
|
NM_001384474.1(LOXHD1):c.5811A>G (p.Thr1937=)
|
rs575811783
|
|
NM_001384474.1(LOXHD1):c.5814C>T (p.Phe1938=)
|
|
|
NM_001384474.1(LOXHD1):c.5840del (p.Gly1947fs)
|
rs2034533882
|
|
NM_001384474.1(LOXHD1):c.5841C>T (p.Gly1947=)
|
|
|
NM_001384474.1(LOXHD1):c.5856G>T (p.Leu1952=)
|
rs2034532245
|
|
NM_001384474.1(LOXHD1):c.585T>C (p.Asn195=)
|
|
|
NM_001384474.1(LOXHD1):c.5863del (p.Trp1955fs)
|
|
|
NM_001384474.1(LOXHD1):c.5865G>A (p.Trp1955Ter)
|
|
|
NM_001384474.1(LOXHD1):c.5878+11C>A
|
|
|
NM_001384474.1(LOXHD1):c.5878+11C>T
|
|
|
NM_001384474.1(LOXHD1):c.5878+13C>T
|
|
|
NM_001384474.1(LOXHD1):c.5878+16G>A
|
|
|
NM_001384474.1(LOXHD1):c.5878+16G>T
|
|
|
NM_001384474.1(LOXHD1):c.5878+17G>A
|
|
|
NM_001384474.1(LOXHD1):c.5878+7C>T
|
|
|
NM_001384474.1(LOXHD1):c.5878+8C>T
|
rs2034529524
|
|
NM_001384474.1(LOXHD1):c.5878+9C>T
|
|
|
NM_001384474.1(LOXHD1):c.5879-14T>G
|
|
|
NM_001384474.1(LOXHD1):c.5879-15G>C
|
|
|
NM_001384474.1(LOXHD1):c.5879-16G>T
|
|
|
NM_001384474.1(LOXHD1):c.5879-19_5879-11del
|
|
|
NM_001384474.1(LOXHD1):c.5879-1G>T
|
rs1444945856
|
|
NM_001384474.1(LOXHD1):c.5879-20C>G
|
|
|
NM_001384474.1(LOXHD1):c.5889T>C (p.Pro1963=)
|
rs2143628936
|
|
NM_001384474.1(LOXHD1):c.5891G>T (p.Gly1964Val)
|
rs771725391
|
|
NM_001384474.1(LOXHD1):c.5904C>T (p.Ser1968=)
|
|
|
NM_001384474.1(LOXHD1):c.5907T>A (p.Tyr1969Ter)
|
rs1598827506
|
|
NM_001384474.1(LOXHD1):c.5907T>C (p.Tyr1969=)
|
|
|
NM_001384474.1(LOXHD1):c.5918A>G (p.Lys1973Arg)
|
|
|
NM_001384474.1(LOXHD1):c.5921del (p.Asp1974fs)
|
|
|
NM_001384474.1(LOXHD1):c.5928C>T (p.Ser1976=)
|
|
|
NM_001384474.1(LOXHD1):c.5935G>A (p.Glu1979Lys)
|
|
|
NM_001384474.1(LOXHD1):c.593G>A (p.Gly198Glu)
|
|
|
NM_001384474.1(LOXHD1):c.5958C>T (p.Asp1986=)
|
rs781736000
|
|
NM_001384474.1(LOXHD1):c.5961C>T (p.Cys1987=)
|
rs930280876
|
|
NM_001384474.1(LOXHD1):c.5967C>G (p.Leu1989=)
|
|
|
NM_001384474.1(LOXHD1):c.5974_5975del (p.Lys1991_Ser1992insTer)
|
rs2033274775
|
|
NM_001384474.1(LOXHD1):c.5988G>A (p.Gly1996=)
|
rs779219973
|
|
NM_001384474.1(LOXHD1):c.5989C>T (p.Gln1997Ter)
|
rs2033273061
|
|
NM_001384474.1(LOXHD1):c.5994G>T (p.Thr1998=)
|
|
|
NM_001384474.1(LOXHD1):c.5997C>T (p.Val1999=)
|
rs1453366870
|
|
NM_001384474.1(LOXHD1):c.6009C>T (p.Ala2003=)
|
|
|
NM_001384474.1(LOXHD1):c.6015C>T (p.Ala2005=)
|
rs2143625061
|
|
NM_001384474.1(LOXHD1):c.6018C>T (p.Asn2006=)
|
|
|
NM_001384474.1(LOXHD1):c.6024G>A (p.Lys2008=)
|
rs2143624866
|
|
NM_001384474.1(LOXHD1):c.6036G>A (p.Glu2012=)
|
|
|
NM_001384474.1(LOXHD1):c.6039G>A (p.Leu2013=)
|
|
|
NM_001384474.1(LOXHD1):c.6045G>A (p.Glu2015=)
|
rs2143624175
|
|
NM_001384474.1(LOXHD1):c.6049+10G>C
|
rs2143623587
|
|
NM_001384474.1(LOXHD1):c.6049+11del
|
|
|
NM_001384474.1(LOXHD1):c.6049+12A>G
|
|
|
NM_001384474.1(LOXHD1):c.6049+16C>T
|
|
|
NM_001384474.1(LOXHD1):c.6049+18T>C
|
|
|
NM_001384474.1(LOXHD1):c.6049+19T>G
|
|
|
NM_001384474.1(LOXHD1):c.6049+1del
|
|
|
NM_001384474.1(LOXHD1):c.6049+7G>A
|
|
|
NM_001384474.1(LOXHD1):c.6049+7G>C
|
rs750279746
|
|
NM_001384474.1(LOXHD1):c.6049+9G>C
|
rs1410056251
|
|
NM_001384474.1(LOXHD1):c.6050-17C>A
|
|
|
NM_001384474.1(LOXHD1):c.6050-17C>T
|
|
|
NM_001384474.1(LOXHD1):c.6050-18C>T
|
|
|
NM_001384474.1(LOXHD1):c.6050-1G>A
|
rs2143559471
|
|
NM_001384474.1(LOXHD1):c.6050-7A>G
|
rs907689730
|
|
NM_001384474.1(LOXHD1):c.6054C>A (p.Tyr2018Ter)
|
|
|
NM_001384474.1(LOXHD1):c.6054C>G (p.Tyr2018Ter)
|
rs137944477
|
|
NM_001384474.1(LOXHD1):c.6054C>T (p.Tyr2018=)
|
rs137944477
|
|
NM_001384474.1(LOXHD1):c.6060C>A (p.Ile2020=)
|
rs745402795
|
|
NM_001384474.1(LOXHD1):c.6072G>T (p.Thr2024=)
|
rs1376734175
|
|
NM_001384474.1(LOXHD1):c.6074del (p.Gly2025fs)
|
rs1442485603
|
|
NM_001384474.1(LOXHD1):c.6078C>T (p.Asn2026=)
|
rs541862102
|
|
NM_001384474.1(LOXHD1):c.6083del (p.Gly2028fs)
|
|
|
NM_001384474.1(LOXHD1):c.608_610+3del
|
|
|
NM_001384474.1(LOXHD1):c.6090C>G (p.Thr2030=)
|
|
|
NM_001384474.1(LOXHD1):c.6092G>A (p.Arg2031Lys)
|
|
|
NM_001384474.1(LOXHD1):c.610+10T>A
|
|
|
NM_001384474.1(LOXHD1):c.610+19T>A
|
|
|
NM_001384474.1(LOXHD1):c.610+2T>A
|
|
|
NM_001384474.1(LOXHD1):c.610+7G>T
|
|
|
NM_001384474.1(LOXHD1):c.610+9T>A
|
rs2144328139
|
|
NM_001384474.1(LOXHD1):c.6105G>A (p.Trp2035Ter)
|
|
|
NM_001384474.1(LOXHD1):c.6108C>T (p.Leu2036=)
|
|
|
NM_001384474.1(LOXHD1):c.611-12_611-11del
|
|
|
NM_001384474.1(LOXHD1):c.611-14G>A
|
|
|
NM_001384474.1(LOXHD1):c.611-20T>C
|
|
|
NM_001384474.1(LOXHD1):c.611-2A>C
|
rs1287270284
|
|
NM_001384474.1(LOXHD1):c.611-2A>T
|
|
|
NM_001384474.1(LOXHD1):c.611-5T>C
|
rs2038498708
|
|
NM_001384474.1(LOXHD1):c.611-6A>G
|
|
|
NM_001384474.1(LOXHD1):c.6111C>A (p.Ile2037=)
|
rs2143557213
|
|
NM_001384474.1(LOXHD1):c.6120C>A (p.Gly2040=)
|
|
|
NM_001384474.1(LOXHD1):c.6130C>A (p.Arg2044=)
|
rs1306586204
|
|
NM_001384474.1(LOXHD1):c.6141G>A (p.Glu2047=)
|
rs2143556052
|
|
NM_001384474.1(LOXHD1):c.6155del (p.Asn2052fs)
|
rs2143555720
|
|
NM_001384474.1(LOXHD1):c.6162T>C (p.Ser2054=)
|
|
|
NM_001384474.1(LOXHD1):c.6169C>T (p.Arg2057Trp)
|
|
|
NM_001384474.1(LOXHD1):c.6171G>T (p.Arg2057=)
|
rs2143555144
|
|
NM_001384474.1(LOXHD1):c.6174C>G (p.Ala2058=)
|
|
|
NM_001384474.1(LOXHD1):c.6181A>C (p.Lys2061Gln)
|
rs2143554936
|
|
NM_001384474.1(LOXHD1):c.6182+11G>A
|
|
|
NM_001384474.1(LOXHD1):c.6182+18A>G
|
|
|
NM_001384474.1(LOXHD1):c.6182+19T>C
|
|
|
NM_001384474.1(LOXHD1):c.6182+1G>T
|
rs200375658
|
|
NM_001384474.1(LOXHD1):c.6182+1_6182+17dup
|
|
|
NM_001384474.1(LOXHD1):c.6182+8G>A
|
rs1050799335
|
|
NM_001384474.1(LOXHD1):c.6182+9_6182+25del
|
rs2143554437
|
|
NM_001384474.1(LOXHD1):c.6183-11G>C
|
|
|
NM_001384474.1(LOXHD1):c.6183-11G>T
|
|
|
NM_001384474.1(LOXHD1):c.6183-12T>C
|
|
|
NM_001384474.1(LOXHD1):c.6183-12del
|
|
|
NM_001384474.1(LOXHD1):c.6183-16C>A
|
|
|
NM_001384474.1(LOXHD1):c.6183-16C>G
|
|
|
NM_001384474.1(LOXHD1):c.6183-1G>A
|
|
|
NM_001384474.1(LOXHD1):c.6183-2A>C
|
|
|
NM_001384474.1(LOXHD1):c.6183-2A>T
|
|
|
NM_001384474.1(LOXHD1):c.6183-4G>C
|
rs749313428
|
|
NM_001384474.1(LOXHD1):c.6187del (p.Thr2063fs)
|
|
|
NM_001384474.1(LOXHD1):c.6216C>T (p.Ile2072=)
|
rs2032784470
|
|
NM_001384474.1(LOXHD1):c.6219C>T (p.Tyr2073=)
|
rs2143531788
|
|
NM_001384474.1(LOXHD1):c.6225G>A (p.Gly2075=)
|
rs746863301
|
|
NM_001384474.1(LOXHD1):c.6225G>C (p.Gly2075=)
|
rs746863301
|
|
NM_001384474.1(LOXHD1):c.6234del (p.Ser2079fs)
|
rs2032781418
|
|
NM_001384474.1(LOXHD1):c.6240C>T (p.Leu2080=)
|
rs1871287025
|
|
NM_001384474.1(LOXHD1):c.6258C>T (p.Ala2086=)
|
|
|
NM_001384474.1(LOXHD1):c.6264A>G (p.Glu2088=)
|
rs2143530459
|
|
NM_001384474.1(LOXHD1):c.6268C>A (p.Arg2090=)
|
rs569341831
|
|
NM_001384474.1(LOXHD1):c.6279C>T (p.Pro2093=)
|
|
|
NM_001384474.1(LOXHD1):c.6282G>A (p.Lys2094=)
|
rs2143529843
|
|
NM_001384474.1(LOXHD1):c.6300T>C (p.His2100=)
|
rs2143529551
|
|
NM_001384474.1(LOXHD1):c.6318C>T (p.Ile2106=)
|
|
|
NM_001384474.1(LOXHD1):c.631G>T (p.Glu211Ter)
|
|
|
NM_001384474.1(LOXHD1):c.6324G>A (p.Glu2108=)
|
|
|
NM_001384474.1(LOXHD1):c.6336C>A (p.Gly2112=)
|
|
|
NM_001384474.1(LOXHD1):c.6341+10G>A
|
rs2143528162
|
|
NM_001384474.1(LOXHD1):c.6341+12G>A
|
|
|
NM_001384474.1(LOXHD1):c.6341+13C>A
|
|
|
NM_001384474.1(LOXHD1):c.6341+14C>T
|
|
|
NM_001384474.1(LOXHD1):c.6341+18C>T
|
|
|
NM_001384474.1(LOXHD1):c.6341+19_6341+40del
|
|
|
NM_001384474.1(LOXHD1):c.6341+2T>A
|
|
|
NM_001384474.1(LOXHD1):c.6342-18C>G
|
|
|
NM_001384474.1(LOXHD1):c.6342-7C>G
|
|
|
NM_001384474.1(LOXHD1):c.6342G>C (p.Val2114=)
|
|
|
NM_001384474.1(LOXHD1):c.6345CTT[1] (p.Phe2117del)
|
rs2143430776
|
|
NM_001384474.1(LOXHD1):c.6354C>T (p.Asn2118=)
|
|
|
NM_001384474.1(LOXHD1):c.6357del (p.Cys2119fs)
|
rs2143430597
|
|
NM_001384474.1(LOXHD1):c.636G>A (p.Lys212=)
|
|
|
NM_001384474.1(LOXHD1):c.6373dup (p.Leu2125fs)
|
|
|
NM_001384474.1(LOXHD1):c.6387G>A (p.Arg2129=)
|
|
|
NM_001384474.1(LOXHD1):c.6390G>T (p.Lys2130Asn)
|
rs2143428813
|
|
NM_001384474.1(LOXHD1):c.6393C>T (p.Tyr2131=)
|
rs1271945686
|
|
NM_001384474.1(LOXHD1):c.6404del (p.Phe2135fs)
|
rs2032164364
|
|
NM_001384474.1(LOXHD1):c.6406G>A (p.Glu2136Lys)
|
|
|
NM_001384474.1(LOXHD1):c.6414C>G (p.Thr2138=)
|
|
|
NM_001384474.1(LOXHD1):c.6425_6428del (p.Glu2142fs)
|
|
|
NM_001384474.1(LOXHD1):c.6427_6428del (p.Ser2143fs)
|
rs1478469981
|
|
NM_001384474.1(LOXHD1):c.6429C>T (p.Ser2143=)
|
|
|
NM_001384474.1(LOXHD1):c.6435C>T (p.Ala2145=)
|
|
|
NM_001384474.1(LOXHD1):c.6438C>T (p.Ser2146=)
|
|
|
NM_001384474.1(LOXHD1):c.6444C>T (p.Val2148=)
|
rs1012826246
|
|
NM_001384474.1(LOXHD1):c.6450C>T (p.Ser2150=)
|
|
|
NM_001384474.1(LOXHD1):c.6453G>A (p.Leu2151=)
|
|
|
NM_001384474.1(LOXHD1):c.6456G>T (p.Val2152=)
|
rs2032156079
|
|
NM_001384474.1(LOXHD1):c.645T>C (p.Phe215=)
|
|
|
NM_001384474.1(LOXHD1):c.6465G>A (p.Lys2155=)
|
rs2143425782
|
|
NM_001384474.1(LOXHD1):c.6481A>G (p.Thr2161Ala)
|
rs2032151816
|
|
NM_001384474.1(LOXHD1):c.6492T>C (p.Tyr2164=)
|
|
|
NM_001384474.1(LOXHD1):c.6492T>G (p.Tyr2164Ter)
|
rs1434725624
|
|
NM_001384474.1(LOXHD1):c.6498A>C (p.Pro2166=)
|
|
|
NM_001384474.1(LOXHD1):c.6498del (p.Ala2168fs)
|
rs2032148329
|
|
NM_001384474.1(LOXHD1):c.6501G>A (p.Gly2167=)
|
rs2143424491
|
|
NM_001384474.1(LOXHD1):c.6508_6515del (p.Thr2170fs)
|
rs1568061304
|
|
NM_001384474.1(LOXHD1):c.6522C>A (p.Val2174=)
|
|
|
NM_001384474.1(LOXHD1):c.6543C>A (p.Ala2181=)
|
|
|
NM_001384474.1(LOXHD1):c.6549A>C (p.Gly2183=)
|
rs2143421838
|
|
NM_001384474.1(LOXHD1):c.6552C>T (p.Asp2184=)
|
|
|
NM_001384474.1(LOXHD1):c.6554_6555del (p.Thr2185fs)
|
|
|
NM_001384474.1(LOXHD1):c.6561G>A (p.Lys2187=)
|
|
|
NM_001384474.1(LOXHD1):c.6562C>A (p.Arg2188=)
|
|
|
NM_001384474.1(LOXHD1):c.6563G>A (p.Arg2188Gln)
|
|
|
NM_001384474.1(LOXHD1):c.6564G>C (p.Arg2188=)
|
|
|
NM_001384474.1(LOXHD1):c.6567G>A (p.Glu2189=)
|
|
|
NM_001384474.1(LOXHD1):c.6585C>G (p.Arg2195=)
|
|
|
NM_001384474.1(LOXHD1):c.6598C>A (p.Arg2200=)
|
rs775258656
|
|
NM_001384474.1(LOXHD1):c.6600G>A (p.Arg2200=)
|
|
|
NM_001384474.1(LOXHD1):c.6601G>A (p.Gly2201Ser)
|
|
|
NM_001384474.1(LOXHD1):c.6606C>T (p.Ser2202=)
|
|
|
NM_001384474.1(LOXHD1):c.6612C>T (p.Asp2204=)
|
|
|
NM_001384474.1(LOXHD1):c.6615C>T (p.Arg2205=)
|
|
|
NM_001384474.1(LOXHD1):c.6624G>A (p.Leu2208=)
|
|
|
NM_001384474.1(LOXHD1):c.6630G>A (p.Thr2210=)
|
|
|
NM_001384474.1(LOXHD1):c.6630G>T (p.Thr2210=)
|
rs764553662
|
|
NM_001384474.1(LOXHD1):c.6637C>T (p.Leu2213=)
|
rs2143419021
|
|
NM_001384474.1(LOXHD1):c.6639G>A (p.Leu2213=)
|
|
|
NM_001384474.1(LOXHD1):c.6639G>T (p.Leu2213=)
|
rs1159626281
|
|
NM_001384474.1(LOXHD1):c.663C>T (p.Asp221=)
|
|
|
NM_001384474.1(LOXHD1):c.6648G>A (p.Leu2216=)
|
|
|
NM_001384474.1(LOXHD1):c.6649C>T (p.Arg2217Cys)
|
|
|
NM_001384474.1(LOXHD1):c.6650G>A (p.Arg2217His)
|
|
|
NM_001384474.1(LOXHD1):c.6657G>A (p.Val2219=)
|
|
|
NM_001384474.1(LOXHD1):c.6660C>A (p.Arg2220=)
|
rs2143418193
|
|
NM_001384474.1(LOXHD1):c.6676A>G (p.Ser2226Gly)
|
rs1352589327
|
|
NM_001384474.1(LOXHD1):c.6684C>T (p.Tyr2228=)
|
rs2143417127
|
|
NM_001384474.1(LOXHD1):c.6693C>A (p.Gly2231=)
|
|
|
NM_001384474.1(LOXHD1):c.6699G>A (p.Leu2233=)
|
rs1218049916
|
|
NM_001384474.1(LOXHD1):c.6699G>T (p.Leu2233=)
|
|
|
NM_001384474.1(LOXHD1):c.6705G>A (p.Glu2235=)
|
rs2143416626
|
|
NM_001384474.1(LOXHD1):c.6714G>A (p.Glu2238=)
|
rs997971610
|
|
NM_001384474.1(LOXHD1):c.6723C>T (p.Asn2241=)
|
rs528843705
|
|
NM_001384474.1(LOXHD1):c.6732C>G (p.Thr2244=)
|
|
|
NM_001384474.1(LOXHD1):c.6735C>T (p.Gly2245=)
|
|
|
NM_001384474.1(LOXHD1):c.6736G>A (p.Val2246Met)
|
|
|
NM_001384474.1(LOXHD1):c.6743C>T (p.Thr2248Ile)
|
rs779935366
|
|
NM_001384474.1(LOXHD1):c.6744C>A (p.Thr2248=)
|
|
|
NM_001384474.1(LOXHD1):c.674_683del (p.Leu225fs)
|
rs2144311846
|
|
NM_001384474.1(LOXHD1):c.6759C>T (p.Gly2253=)
|
|
|
NM_001384474.1(LOXHD1):c.6763T>C (p.Trp2255Arg)
|
|
|
NM_001384474.1(LOXHD1):c.6771C>T (p.Asp2257=)
|
rs2143414791
|
|
NM_001384474.1(LOXHD1):c.6779G>C (p.Arg2260Pro)
|
rs753209859
|
|
NM_001384474.1(LOXHD1):c.6780G>A (p.Arg2260=)
|
rs2143414485
|
|
NM_001384474.1(LOXHD1):c.6780G>C (p.Arg2260=)
|
rs2143414485
|
|
NM_001384474.1(LOXHD1):c.6792C>T (p.Leu2264=)
|
|
|
NM_001384474.1(LOXHD1):c.6794C>T (p.Thr2265Ile)
|
|
|
NM_001384474.1(LOXHD1):c.697C>T (p.Leu233=)
|
|
|
NM_001384474.1(LOXHD1):c.70C>T (p.Leu24=)
|
rs907526414
|
|
NM_001384474.1(LOXHD1):c.710A>G (p.Asn237Ser)
|
rs539278802
|
|
NM_001384474.1(LOXHD1):c.710A>T (p.Asn237Ile)
|
|
|
NM_001384474.1(LOXHD1):c.717C>G (p.Gly239=)
|
rs1555686141
|
|
NM_001384474.1(LOXHD1):c.717C>T (p.Gly239=)
|
rs1555686141
|
|
NM_001384474.1(LOXHD1):c.720C>T (p.His240=)
|
|
|
NM_001384474.1(LOXHD1):c.732G>A (p.Gly244=)
|
|
|
NM_001384474.1(LOXHD1):c.734dup (p.Ser246fs)
|
rs1468257550
|
|
NM_001384474.1(LOXHD1):c.735C>T (p.Gly245=)
|
|
|
NM_001384474.1(LOXHD1):c.740C>A (p.Ala247Glu)
|
|
|
NM_001384474.1(LOXHD1):c.740del (p.Ala247fs)
|
|
|
NM_001384474.1(LOXHD1):c.752_756del (p.Leu251fs)
|
rs2144311662
|
|
NM_001384474.1(LOXHD1):c.759+10G>T
|
|
|
NM_001384474.1(LOXHD1):c.759+11C>T
|
rs755171381
|
|
NM_001384474.1(LOXHD1):c.759+17C>T
|
|
|
NM_001384474.1(LOXHD1):c.759+1G>C
|
rs2038495632
|
|
NM_001384474.1(LOXHD1):c.760-11C>T
|
|
|
NM_001384474.1(LOXHD1):c.760-16C>G
|
|
|
NM_001384474.1(LOXHD1):c.760-18C>T
|
|
|
NM_001384474.1(LOXHD1):c.760-1G>C
|
rs2144294201
|
|
NM_001384474.1(LOXHD1):c.760-20T>G
|
|
|
NM_001384474.1(LOXHD1):c.760-20_760-17dup
|
|
|
NM_001384474.1(LOXHD1):c.760-4C>T
|
|
|
NM_001384474.1(LOXHD1):c.760-8C>T
|
|
|
NM_001384474.1(LOXHD1):c.760-9_760-7del
|
|
|
NM_001384474.1(LOXHD1):c.765C>A (p.Val255=)
|
|
|
NM_001384474.1(LOXHD1):c.774T>C (p.Asp258=)
|
rs2144294157
|
|
NM_001384474.1(LOXHD1):c.780G>T (p.Gly260=)
|
|
|
NM_001384474.1(LOXHD1):c.788_794del (p.Arg263fs)
|
|
|
NM_001384474.1(LOXHD1):c.789A>G (p.Arg263=)
|
rs2038380090
|
|
NM_001384474.1(LOXHD1):c.801C>T (p.Phe267=)
|
|
|
NM_001384474.1(LOXHD1):c.804C>G (p.Pro268=)
|
rs1394534666
|
|
NM_001384474.1(LOXHD1):c.819G>T (p.Leu273=)
|
|
|
NM_001384474.1(LOXHD1):c.822C>T (p.Ala274=)
|
|
|
NM_001384474.1(LOXHD1):c.823T>C (p.Leu275=)
|
|
|
NM_001384474.1(LOXHD1):c.82T>C (p.Ser28Pro)
|
|
|
NM_001384474.1(LOXHD1):c.837T>C (p.Asp279=)
|
|
|
NM_001384474.1(LOXHD1):c.84G>A (p.Ser28=)
|
|
|
NM_001384474.1(LOXHD1):c.852G>A (p.Arg284=)
|
|
|
NM_001384474.1(LOXHD1):c.864G>A (p.Val288=)
|
|
|
NM_001384474.1(LOXHD1):c.867C>A (p.Gly289=)
|
rs748490817
|
|
NM_001384474.1(LOXHD1):c.870del (p.Ala291fs)
|
|
|
NM_001384474.1(LOXHD1):c.883+11A>G
|
|
|
NM_001384474.1(LOXHD1):c.883+16G>C
|
|
|
NM_001384474.1(LOXHD1):c.883+2T>C
|
|
|
NM_001384474.1(LOXHD1):c.883+58C>G
|
rs9958924
|
|
NM_001384474.1(LOXHD1):c.883+7T>A
|
|
|
NM_001384474.1(LOXHD1):c.884-15T>C
|
|
|
NM_001384474.1(LOXHD1):c.884-17T>C
|
|
|
NM_001384474.1(LOXHD1):c.884-218C>T
|
rs675312
|
|
NM_001384474.1(LOXHD1):c.884-22_884-19del
|
|
|
NM_001384474.1(LOXHD1):c.884-4C>A
|
|
|
NM_001384474.1(LOXHD1):c.884-4C>T
|
rs1457228862
|
|
NM_001384474.1(LOXHD1):c.884-7A>G
|
rs1035237484
|
|
NM_001384474.1(LOXHD1):c.885T>G (p.Ala295=)
|
|
|
NM_001384474.1(LOXHD1):c.888del (p.Thr297fs)
|
rs2038338161
|
|
NM_001384474.1(LOXHD1):c.889dup (p.Thr297fs)
|
|
|
NM_001384474.1(LOXHD1):c.894T>G (p.Tyr298Ter)
|
rs886043441
|
|
NM_001384474.1(LOXHD1):c.909C>T (p.Phe303=)
|
|
|
NM_001384474.1(LOXHD1):c.917_926del (p.Asp306fs)
|
|
|
NM_001384474.1(LOXHD1):c.919del (p.Val307fs)
|
rs2144284524
|
|
NM_001384474.1(LOXHD1):c.924G>C (p.Arg308=)
|
rs531608239
|
|
NM_001384474.1(LOXHD1):c.930T>A (p.Ala310=)
|
|
|
NM_001384474.1(LOXHD1):c.930T>C (p.Ala310=)
|
rs1468183641
|
|
NM_001384474.1(LOXHD1):c.933T>C (p.Gly311=)
|
|
|
NM_001384474.1(LOXHD1):c.948C>A (p.Ile316=)
|
|
|
NM_001384474.1(LOXHD1):c.951C>T (p.Tyr317=)
|
|
|
NM_001384474.1(LOXHD1):c.952T>C (p.Leu318=)
|
|
|
NM_001384474.1(LOXHD1):c.970A>T (p.Arg324Ter)
|
|
|
NM_001384474.1(LOXHD1):c.978del (p.Asn326fs)
|
rs2144283917
|
|
NM_001384474.1(LOXHD1):c.981G>A (p.Lys327=)
|
rs1168473818
|
|
NM_001384474.1(LOXHD1):c.984C>T (p.Asn328=)
|
|
|
NM_001384474.1(LOXHD1):c.994del (p.Ile332fs)
|
|
|
NM_001384474.1(LOXHD1):c.996C>A (p.Ile332=)
|
|
|